Skeletal dysplasia

skeletal dysplasia

1. SKELETAL DYSPLASIA ADRIJA MANDAL 2ND YEAR PGT BMCH

2. Greek word: “ Dys ” – disordered and “ Plassein ” – to form a/k/a Osteochondrodysplasias . heterogeneous group of disorders comprising of abnormalities of bone or cartilage growth or texture. Occur due to genetic mutations. Overall prevalence - 2.3 – 7.6 per 10000 births.

3. DYSPLASIA VS DYSOSTOSES Disorders with generalized abnormality of the skeleton. Phenotype continues to evolve throughout the life. Disorders with abnormality of a single or multiple bones. Phenotypically remains static throughout the life.

4. Normal fetal skeleton DEVELOPMENT……. TVS can demonstrate limb buds by 7 wks of gestation , foot and hand plates by 8 wks. By 11 to 12 wks primary ossification of centers of long bones ,limb articulation , phalanges can be identified. Direction of growth ul to ll and prox to dist. The earliest secondary epiphysis to ossify … calcaneus ,at 20 wks Among the long bones secondary ossification centers for distal femur , proximal tibial epiphysis ossify prenatally.

5. Distal femoral epiphysis ossify as early as 29wks and as late as 34 wks. It measures greater than 7 mm …. ges age later than 37 wks. In uncompiecated pregnanacy the combination of distal femoral epiphysis of more than eq to 3 mm and presence of proximal tibial epiphysis is considered a reliable markar of pulmonary maturity.

6. Extremity measurement The longest femoral measurement , excluding both proximal and distal epiphyses , is usually chosen. Tibia and fibula ends at the same level distally. The ulna is distinguished from radius by its longer proximal extent and its relationship with 5 th digit distally. Ges age in wks is approx length of the clavicle from 14wks to term. By 40 wks gestation ,the clavicle measure approx 40 mm.

7. Foot length…. Femur /foot length ratio…1.0 In constitutionally small or symmetrical iugr , ratio is 0.9 or more. In dysplasia ratio is less than 0.9 , bcz relative sparing of hand and foot.

8. Diagnostic approach

9. Prenatal assessment

10. Antenatal diagnosis Long Bones Chest Hands & Feet Skull Spine & Pelvis - Long bones length Absence & malformation Hypoplasia Curvature, degree of mineralization, fractures Femur length–abdominal circumference ratio (<0.16 - lethal outcome) Femur length–foot length ratio (normal = 1, <1 suggests skeletal dysplasia) Chest–trunk length ratio < 0.32 Chest circumference < 5th percentile for gestational age - indicator of pulmonary hypoplasia. Pre- or postaxial polydactyly preaxial - extra digits on radial or tibial side postaxial – extra digits on ulnar or fibular side) - Syndactyly - soft-tissue or bone fusion of adjacent digits - Clinodactyly - deviation of a finger - Other Deformities - Head circumference & biparietal diameter - Interorbital distance - Degree of mineralization - Micrognathia, short upper lip, abnormally shaped ears, frontal bossing, cloverleaf skull - Brachycephaly (anteroposterior shortening ) , scapocephaly (lateral flattening ), craniosynostoses - Total length & presence of curvature - Mineralization of vertebral bodies & neural arches -Vertebral height: Platyspondyly (flattened vertebral body shape with reduced distance between endplates) - Thanatophoric dysplasia. Shape of the pelvis

11. Abnormal bone length on usg Abnormal fl is defined as below -2sd for gestational age . When one or all long bones measure less than -2sd for gestational age , follow up usg should be done in 3 to 4 wks to evaluate interval growth. Interval growth normal ….high likelihood that the fetus do not have sd Further deviation from mean by at least I sd should suggest sd or severe iugr

12. Most common cause for short femur is either inaccurate dating or normal variant in a constitutionally small fetus. Severe iugr ….greatly shortened long bones , normal or decreased skin fold thickness oligohydramnios abnormal placental morphology abnormal doppler Skeletal dysplasia ….redundant , thickened skin fold polyhydramnios

13. Nonlethal skeletal dysplasia are generally not evident before 20 wks. Short long bone before 20 wks indicate serious sand usually fetal skeletal dysplasia.

14. Post natal assessment

15. What to look at A anatomic site B bone C complication

16. Epiphyseal dysplasia – small under ossified epiphyses Metaphyseal dysplasia – widened, flared or irregular metaphyses Diaphyseal dysplasia – cortical thickening or obliteration of marrow space Epiphyseal Dysplasia Metaphyseal Dysplasia

17. Thanatophoric dysplasia Most common lethal skeletal dyspalsia . Prevalence 0.24 to 0.69 per 10000 births. Two types…. type 1 – telephone receiver extremities but without cloverleaf skull. type 2 – cloverleaf skull without telephone receiver extremities

18. Cloverleaf skull due to premature craniosynostosis of the lambdoid and coronal sutures

19. Macrocrania Frontal bossing Flattened nasal bridge with mid face hypplasia Decreased thoracic circumferance Normal trunk length Severe micromelia …. rhizomelic type Telephone receiver extremities….bowed , curved appearance secondary to broadened metaphyses Platyspondyly Wafer thin vertebral body with Relatively larger hypoechoic disc space . Cns findings…. holoprosenchephaly , agenesis of corpus callosum , heteroptropia , polymicrogyria , ventriculomegaly Mineralization is normal

20. achondrogenesis Second most common lethal skeletal dysplasia. Homozygous achondroplasia Ar inheritence Two types ---- type 1 – 25% recurrence partial or complete lack of calvarial ossification a …associated with rib fracture b…. No rib fracture type 2 –very small recurrence risk normal calvarial ossification more severe involvement of vertebral column

21. Macrocrania Micromelia ….short cuboid bones and metaphyseal scalloping Decreased thoracic circumference and trunk length Decreased mineralization – complete or partial lack of ossification of calvarium ( type 1 ) , sacral and pubic bones ,vertebral boodies . Predominant demineralization of vertebral bodies with only two echogenic posterior elements

22. hypophosphatasia Ar type lethal skeletal dysplasia Deficiency of tissue nonspecific alkaline phosphatase . Key features ,,,,,, cranial vault size , trunk size remain normal micromelia decreased thoracic circumference due to short ribs demineralization of long bones which are thin , delicate , bowed , occasional angulation , fracture cranial vault fails to mineralize and may be compressed under trannsducer posterior elements are poorly ossify ( achondrogenesis – v bodies involve )

23. d/d thanatophoric dysplasia…..see mineralization vault size osteogenic imperfecta ….bones are thickened , wavy achondrogenesis ….see vertebrae , trunk and vault size

24. Campomelic dysplasia Ad condition Bent limb dyspalsia Most cases are lethal due to respiratory insufficiency from laryngotracheomalacia in combination with mildly narrowed thorax. Gene responsible for it found in fetal brain , testis , perichondrium and chondrocytes of long bones , ribs.

25. Short , ventrally bowed tibia , femur , hypoplastic or absent fibula Talipes equinovarus , cdh hypoplastic scapula Narrowed thorax 11 pair ribs Cleft palate , micrognathia Congenital heart , brain , renal anomaly

26. Short rib polydactyly syndrome Severe micromelia Decreased thoracic circumference Polydactyly CARdiac , genitourinary anomaly ( also in campomelic dysplasia) Normal mineralization Normal crANIAL SIZE d/d ….. thanatophoric dysplasia …no polydactyly ellis - van- creveld syndrome , asphyxiating thoracic dystrophy…..shortening of limbs and thoracic diameter less severe

27. achondroplasia Failure of normal enchondral cartilage growth at physis Periosteal , membranous ossification are normal Most common type of dwarfism Autosomal dominant disorder and the majority of cases (75-80%) are the result of a new ( de novo) mutation , associated with an increase in paternal age.

28. radiology Head large cranium , though decreased ap diameter – brachycephaly narrow foramen magnum short base of skull basilar impression Face frontal bossing depressed nasal bridge normal mandible ,so impression of prognathism

29. Scapula squared inferiorly shallow geinoid Vertebrae lumbothoracic kyphosis lumber hyper lordosis length generally normal platyspondyly , disc height eq to vertebral body posterior scalloping pedicles are sort , thick , interpedicular distance decreased angular kyphosis at thoracolumber junction resulting from anterior beaking or bullet nose vertebrae spinal canal stenosis ---- pathologic hallmark

30. Ribs short Pelvis small ilia are short caudally horizontally placed acetabulla , thickened y cartilage Limbs ul > ll rhizomelic type metaphysis …..splaying , cupping Genu verum trident hand tibia , ulna are more shortened than fibula , radius v shaped notch in growth plate short , tubular long bones of hand and feet fingers are of same length Mental and sexual development are normal

31. 1. Dysplastic or square iliac bones  2. Narrow sacro -sciatic notches 3. Flat bilateral acetabular roofs  4. Short both femoral necks 5. Champagne glass-shaped pelvic cavity

32. Considering the incidence and potential severity of neurologic symptoms associated with foramen magnum stenosis , a baseline MRI is strongly recommended in infancy. MRI showing cervicomedullary compression at foramen magnum

33. hypochondroplasia It is condrodystrophy with autosomal dominant inheritance, is a form of short stature. FGFR3 gene mutation is known to be associated with it. cannot be detected at birth, may remain undiagnosed patients with hypochondroplasia are short but less so than those with achondroplasia radiographic features may be subtle, leading to missed diagnosis in up to half of cases

34. Clinical features Short stature. Shortening of proximal ( rhizomela ) or middle ( mesomelia ) segment of the extremities. Broad, short hands and feet ( brachydactyly ). The abdomen and buttocks are prominent. Bow legs ( genu varus ). Scoliosis. Skull appears normal Mild to moderate intellectual disability.

35. Shortening of long bones with metaphyseal flaring. Narrowing of interpedicular distance from L1 to L5 with short pedicles. Brachydactyly . Short and broad femoral neck. Distal fibula overgrows as compared to distal tibia . Small iliac bones.

36. pseudochondroplasia Pseudoachondroplasia develop short-limbed dwarfism in which both the epiphyses and metaphyses are involved. Presentation between 3 to 4 years.

37. Cranium and face – normal Normal intelligence Spine - vertebral bodies are flat , irregular central anterior tongue , interpedicular distance are maintained Long bones – metaphyses flared and broad delayed appearance o epiphyses epiphyseal dysplasia characteristic medial beaking of femoral neck Pelvis – ilia are large , flared and short pubis , ischium acetabula are irregular , shallow gsn ….wide premature oa Hands – long tubular bones are short thick , delay appearance of irregular epyphyses markedly shortened ulna , radius at wrist , especially at center they are hyoplastic ….giving V appearance joint laxity , including cervical spine instability, genu valgum , genu varum , and genu recurvatum .

38. Major d/d Morquio’s disease multiple epiphyseal dysplasia

39. Cleidocranial dysplasia Ad Mutation of chr 6 Faulty ossification of intramembranous and enchondral bones Ischio – vertebral dysplasia : no cranial , no clavicular abnormality

40. Clinical features Recurrent uti , otitis media , sinus infection , dental caries , periodontitis Dental panoramic radiology is effective in identifying features pathognomonic for cleidocranial dyspladsia .

41. radiology Skull in infancy delayed or absent ossification of calvaria brachycephaly multiple wormian bones widening of primary sutures – hot cross bun sign supraorbital , temporal squama , occipital region are thickened deformed , enlarged foramen magnum Face small , underdeveloped facialbones hypoplastic sinus nasal bone fail to ossify small maxilla , large mandible delayed , defective dentition

42. Thorax ribs are normal cone shaped narrow thorax clavicle : 10% absent involvement of either 3 centers of ossification scapula : small , winged , elevated hypermobile shoulders Spine biconvex vertebral bodies scoliosis , hyperlordosis , kyphoscoliosis spina bifida

43. Pelvis small , underdeveloped pelvic bones symphysis pubis fails to approximate anteriorly femoral head : chefs hat coxa valga develops into coxa verus Extremity long bones of extremities are less commonly involved most marked changes are noted in hand accessory epiphyses for base of 2 nd metacarpal …elongate digits. distal phalanges are tapered , hypoplastic short height but dwarfism is not common

44. Epiphyseal dysplasia chondrodysplasia punctata dysplasia epiphysealis hemimelica epiphyseal dysplasia multiplex spondyoepiphyseal dyslasia

45. Chondrodysplasia punctata characterized by stippled calcifications within the epiphyses in infancy and associated with short stature, dry and scaly skin, occasional heart defects, and cataracts. two types :1. lethal recessive 2. conradi - hunermann syndrome : more common type / x linked dominant / x linked recessive ..rare

46. Sporadiac cases f conradi hunermann result from women who received coumadin , warfarin during pregnancy. Puncatate epiphyseal calcification ….disappear within the 1 st year of life , so it is imperative that dx be made before disappearance of these characteristic calcification Pathophysiology : epiphysea hypervascularity , mucoid degeneration , subsequent fragmentation followed by calcification and ossification

47. Lethal recessive form autosomal recessive form f > m ( o.i , fd ) ul > ll Symmetric rhizomelic shortening of limbs metaphyses are flared cataract , optic atrophy coronal cleft of vertebrae die in ist year ….respiratory failure , tracheal stenosis , sppinal cord comression .

48. Conradi - hunerman syndrome x linked dominant …normal life expectancy x linked recessive …very rarely skin change : icthyosis , linear alopecia , nail abnormality asymmetrical limb shortening….mild form metaphyse , diaphyses are normal spine : vertebral endplate , central stippling ribs , hyoid , thyroid , base of skull ….stippling

49. Dysplasia epiphysealis hemilelia Trevor diasease Non genetic Associated with sclerosing skeletal dysplasia , benign cartilaginous lesions Three categories : monostotic classical form – more than on bone in single limb generalzsed or severe form – entire limb

50. Clinical features Presenting during ist decade Symptomatic when asymmetrical epiphyseal growth interfere normal range of joint motion Limb shortening , or lengthening Hard bony swelling Regional muscular atrophy , clumsy gait

51. Predominantly lower limb monomelic Medial > lateral Most common sites : distal femur , distal tibia and talus Small bones of hand and feet can also be involved Asymmetrical lobulated overgrowth of epiphyses which is described as osteocartilaginous tumor histologically.sometimes composed of multiple ossification centers , may remain separated from the epiphyses

52. Radiographs usually demonstrate a partially ossified, lobulated , cartilaginous mass arising unilaterally from the affected epiphysis with or without an osseous connection. The diagnosis is usually made with radiographs, but the lesion can be mistaken for an intra- articular loose body, osteochondromatosis , or synovial chondromatosis . CT can help define the anatomic relationship between the mass and the host bone, and MRI can show the extent of epiphyseal involvement and joint deformity and the status of the articular surface.   There may be a cleavage plane demonstrated between the lesion and host bone that gradually ossifies as the lesion matures

53. Coronal computed tomography scan of the ankle demonstrating irregularly shaped protuberant bone (white arrow) in the medial aspect of the joint (A). Axial computed tomography scan of the ankle demonstrating an irregularly shaped protuberant bone lesion of the medial ankle joint, with a portion connected to the anterior talus, and a second lesion more posteriorly located and a defined cleft (black arrows) at the interface (B).

54. It is not to be confused with hme , which involve metaphyses and spare epiphyses

55. Epiphyseal dysplasia multiplex Ad transmission Equal in males and females First noticed when child begins to walk , with common complaints of waddling gait , difficulty running. Milder cases may not apparent until early adulthood , when premature joint degenerative changes occurs. Pathophysiology : abnormality of epiphyseal chondrocytes ( no decreased , abnormal arrangement )….leading to delayed and disorderly ossification f epiphyses.

56. ll >> ul short stature with tendency towards dwarfism Bilateral symmetrical involvement Development of epiphyses delayed Appearance is mottled with irregular mineralization flattened and squared-off epiphyses   double layered patella …… pathognmonic hypoplastic tibial and femoral condyles with shallow intercondylar notch Metaphyses are flared Carpals , tarsals and long tubular bones of hand ,sometimes feet are short and thick Spine : anterior wedging , scoliosis

57. Irregular epiphyses leads to premature and severe degenerative change especially in knees and hips. d/d legg -clave- parthes morquio cretinism sed pseudochondroplasia

58. Spondyloepiphyseal dysplasia . Spondyloepiphyseal dysplasia (SED) is a descriptive term for a group of disorders with primary involvement of the vertebrae and epiphyseal centers resulting in a short-trunk disproportionate dwarfism. Two major types of SED are recognized, namely, SED congenita and SED tarda . SED, metatropic dysplasia, and Kniest syndrome are considered short-trunk dwarfing conditions

59. Sed congenita present at birth face : flat , widely spaced eyes cleft palate hearing loss occular involvement : myopia , rd neck : short spine : pear shaped vertebrae with age - platyspondyly thin disc scoliosis , severe kyphosis , hyperlordsis odontoid hypoplasia , occasional non union of odontoid ….cervical instability

60. pelvis : lack of ossification of pubic bone , iliac wings are short acetabular roof horizontal , irregular Limbs : ossification of femoral head is greatly retarded throughout childhood delayed appearance of distal femur , proximal tibia , calcaneum , talus rhizomelic shortening metaphyses are flared irregular epiphysese maturation of carpals and tarsals may be retarded

61. Sed tarda x linked recessive Present around 5 – 10 years Mild loss of stature Spinal and pelvic changes are less severe Heaped up vertebrae : hyperostotic bone deposited on posterior 2/3 of endplates…..

62. Sed tarda

63. Fibrodysplasia ossificance progerssiva Disabling genetic disorder of connective tissue. Usually sporadiac Munchmeyer disease Presentation : usually during ist year of life congenital digital anomalies torticolis ( most common c/f) trivial trauma – fever , inflammatory soft tissue masses – progressive ossification leading to restricted joint movement

64. Pathology : lack of circulatory inhibitors or primary defect in collagen. painful soft tissue mass collagen deposits organize and calcium salt accumulate within it. lamellar , woven bone formation ….replace smooth muscle, tendon ,fascia ,ligaments

65. Congenital Digital anomaly microdactyly of ist toe ..75% cases , sometime thumb ( absence , short phalanx , synostosis ) hallux valgus clinodactyly Ectopic ossification column of bones replaces ligaments , fascia , tendons intervertebral disc … hypoplastic , calcified hypoplastic ankylosed vertebral bodies ( hypoplasia due to early ossificationof soft tissue leads to premature fusion of cervical growth plate centers) Broad femoral neck

66. Infantile cortical hyperostosis Caffey’s disease Self limiting disorder characterized by soft tissue swelling, subperiosteal new bone formation, cortical thickening of underlying bones, fever, and irritability onset of the disease occurs <5 months , with resolution by 3 years of age Types : sporadic form(mandible affected), mimicking infection familial form(tibia affected), AD, a prenatal form, lack of fractures distinguishes this from osteogenesis imperfecta

67. Clinical triad of …. hyperirritability soft tissue swelling( extremely tender but lack of warmth an discoloration) palpable hard mass over affected bone Fever , anemia , elevated alp esr Remission , exacerbation are common Most commonly involved bone ….mandible > clavicle > ribs. Among long bone ulna most common Vertebrae , carpals , tarsals , phalanges , epiphyses ---- never involve

68. Differential Diagnosis Features Resembling those of Caffey Disease Features Distinct from those of Caffey Disease Osteomyelitis Similar MRI findings of soft tissue and marrow edema, periosteal reaction Usually only affects 1 bone for a given clinical period, bone destruction and sclerotic bony changes Leukemia Pronounced periosteal bone formation Lytic bone lesions, radiolucent metaphyseal bands Hypervitaminosis A Periosteal new bone formation typically along the diaphysis of long bones Characteristic clinical/radiographic findings at the end of the first year, mandible not involved, increased blood level of vitamin A Healing rickets Stripelike density that parallels the outer cortical margin of long bones, resembling a periosteal reaction Splaying and irregularity of the metaphysis , slower resolution of clinical and radiographic findings Bone tumor Periosteal new bone formation, similar appearance of microscopic proliferation of subperiosteal cells Malignant features of bone tumors including tumor mass; solitary lesion

69. X ray: Plain radiographs may show soft-tissue swelling and/or cortical hyperostosis ( with doubling or tripling of the normal width of the bone ). The periosteal reaction progresses to subperiosteal new bone formation. Osseous bridging and fusion of cortical walls MRI: useful when infection or neoplasia are considered more likely diagnoses. MRI may be used to exclude subperiosteal hemorrhage; MRIs depict hemorrhage with subsequent new bone formation, as seen with differential diagnoses ( eg , trauma, scurvy). Bone scan: . Accumulation of the radiopharmaceutical in the involved bones in symmetrical fashion , is markedly increased during the active phase of the disease.

70. Residual change facial asymmetry , longitudinal growth disturbances , medullary expansion , undertubulation , osseous bridging d/d child abuse progressive diaphyseal dysplasia

71. Marfan’s syndrome Defect in fibrilin-1 gene on chromosome 5 Clinical features : long slender skeleton ll > ul normal trunk distal portions > proximal portions mental capacity normal sparse subcutaneous tissue , muscular hypoplasia , joint laxity ,dislocation dolychocephaly ectopia lentis ,myopia ar , aortic aneurysm , asd increased metacarpal index

72. radiology Skull : dolychocephaly Face : elongated , prominent jaw Limbs : ll > ul acrodactyly or spider like fingers : tubular bones of hand , feet long , slender , gracile , osteopenia Pelvis : acetabular protrusion..u/l or b/l Spine : severe scoliosis , kyphoscoliosis spinal canal widened >50% of cases posterior vertebral scalloping pedicle , lamina are slender interpedicular distance increased these are due to dural ectasia

73. Thorax pectus excavatum pectus craniatum elongated ribs d/d loeys dietz syndrome homocystinuria …..overgrowth of carpal epiphyses men ii b

74. Ehler danlos syndrome Rare connective tissue disorder due greatly diminished amount of collagen-iii Type iv is most serious : extreme vascular fragility minimal joint involvement thin skin

75. Clinical features Tall stature Hyperelasticity ,fragility of skin…..cigarette paper skin subcutAneous nodules Limbs: hyperextension of hip , wrist joint , knee Genu recurvatum Hyperabduction of thumb Pes planus Pectus craniatum , excurvatum Cvs : tof , aortic dissection, aortic aneurysm , avf , varicose vein Rsp : pul hypertension , bronchiectasis , spontaneous pneumothorax

76. Dilatation of bowel as well a sponatneous perforation Radiology : bone density decreased skin : calcified subcutaneous nodules spine : platyspondyly dural ectasia posterior vertebral scalloping scoliosis spondylolytic spndylolisthesis acrolysis

77. Metaphyseal dysplasia Rare ar disorder characterized by splaying or flaring of ends of long bones # craniometaphyseal dysplasia is more severe disorder …. Mental reterdation , cranial nerve palsy , hemiplagia or quadriplagia Clinical feature : late childhood tall stature bulbous enlargement of lower extremity joints joint pain , contracturre genu valgum pathophysiology : congenital hyperplasia of perichondrial ring arteries – chronic hyperemia of perichondrial ring of osteoblast – failure of subperiosteal remodeling in the metaphyses .

78. radiology Ll > ul Bone density normal Most commonly involved bones are….distal femur , proximal tibia , fibula In upper extremity ….proximal humerus , distal ulna , radius Small tubular bones of hand , feet Sternal ends of clavicle , ribs Metaphyseal splaying or an erlenmeyer flask deformity Sinus hypoplasia Hyperostsis of calvaria , mandible

79. Nail patella syndrome Ad disorder of ectodermal , mesodermal tissue Osteo-onycho-dysostosis , fong disease Clinical feature : nail – 80-90% of patients have nail abnormalities bilaterally symmetrical with absent or dysplastic nails. This finding is present at birth . soft tissue – joint contracture , iris pigment , hand and feet web hand – clinodactyly , short 5 th metacarpal  loss of DIP skin creases was seen in 96% of patients Hyperextension of the PIP joint and flexion of the DIP joints, resulting in “swan necking”, was seen in 58% (69/118) of patients elbow – increased carrying angle , Elbow pterygia knee – palpable absence of patella renal – dysplasia

80. radiology Pelvis : Bilateral posterior iliac horns originate from separate ossification center ….. pathognomonic Knee : Hypoplastic or absent patella Asymmetric development of femoral condyles Elbow : lateral epicondyle of distal humerus , capitulum are hypoplastic ….producing increased carrying angle , dislocation of radial head. Hand : clinodactyly short 5 th metacarpal

81. Massive osteolysis of gorham Vanishing bone disease Usually evident before 50 years Pathophysiology : bone is replaced by angiomatous tissue - vascular fibrous tissue – bone resorption due to hypervascularity and increase in osetoclast number. Clinical feature : sudden onset pain or insidious progressive dull pain with soft tissue atrophy pathologic fracture

82. radiology Initially subcortical , intramedullary radiolucent foci Prograssive destruction Pointed or Tapered ends of long bones Fragmentation ., fracture Soft tissue atrophy , phlebolith d/d metastatic neuroblastoma histiocytosis lymphangiomatosis of bone fibrous dysplasia

83. Hurler’s disease Dysostosis multiplex , osteochondrodystrophy Clinical features :

84. rADIOLOGY Skull : macrocephaly thick calvaria j shaped sella hydrocephalus premature closure o sutures Face : facial bones are small mandibular angle is widened Ribs : spatulated appearance

85. Spine : dysplastic odontoid …. atlantoaxial subluxation short ap diameter of vertebral bodies biconvex bodies inferior beaking long , slender pedicles narrow foramen magnum Pelvis : flared ilia femoral epiphyses are dysplastic coxa valga

86. Limbs : ul > ll varus deformity of humerus ….characteristic long bones widened diaphyses osteoporosis Hand : proximal ends of metacarpals taper and in older children distal end of radius , ulna slope toward each other. metacarpals , phalanges are short and wide

87. Morquio’s syndrome

88. Clinical features Dwarfism Normal mental status Short neck Depressed nasal bridge , short nose , hypertelorism , Wide maxilla Deformed poorly spaced teeth Pectus excavatum Kyphoscoliosis Genu valgum Hip dislocation

89. radiology Spine : central anterior beaking …. pathognomonic Platyspondyly hypoplastic , posteriorly displaced l1 , l2 agenesis or hypoplastic odontoid Pelvis : hypoplastic , irregular acetabuli , capital femoral epiphyses wide femoral neck hip dislocation Limbs : long tubular bones are short and thick irregular metaphyses , epiphyses irregular carpals , tarsals bone density is normal

90. Major d/d is spondyloepiphyseal dysplasia pseudoachondroplasia

91. Osteogenesis imperfecta Inheritable disorder of connective tissue with widespread abnormalities. Quantitative and qualitative defect in the synthesis of collagen - 1 Clinical feature : osteoporosis with abnormal fragility of the skeleton blue sclera abnormal dentition premature otosclerosis Two forms : congenita – high rate of stillborn and infantile mortality tarda form – normal life expectancy these two forms refer to presence or absence of osseous deformities at birth. presence or absence of bowing deformity of long bone is useful to guide severity of disease

92. Type 11>111>1v>1

93. cLinical feature F>m Blue sclerae – appearance of brown choroid when seen through the abnormal collagen in thin sclera Bluish gray to yellowish brown opalescent teeth , referred to as dentigerous imperfecta Otosclerosis Abnormal temperature regulation growth retardation severely affected individuals are dwarfed ….abnormal growth pattern , severe fractures , deformities

94. Pathophysiology : abnormal maturation affecting both enchondral , membranous bones primitive fetal collagen , bone are not replaced by mature lamellar , woven bone Radiology : diffuse decrease in bone density , pencil thin cortex , multiple fractures , wrinkled contour angulation . on usg - bones may appear thickened… demineralized bone reflects sound wave less than a normal bone bright falx sign bones may be - thin and gracile ….most common short , thick due to fracture deformity cystic type …. osteopenic , flared metaphyses skull – enlarged skull wormian bone lucent and thin calvaria

95. Thorax decreased thoracic circumference concave thoracic contour Spine biconcave or flattened vertebrae anterior wedging kyphoscoliosis Extremity – ll > ul multiple fracture soften transverse healing with tumoral callus formation mistaken for osteosacoma

96. Absent calvaria , nasal bone ossification

97. Holt oram syndrome Ad Strong familial transmission Heart – hand syndrome Skeletal abnormality do not involve ll Radiology : hypplastic clavicle, scapula, humeri hypoplastic or absent radius radio- ulnar , humero-ulnar synostosis absent thumb triphalangeal thumb extra carpals , carpal fusion

98. melorheostosis an uncommon mesenchymal dysplasia manifesting as regions of sclerosing bone with a characteristic  , wax flowing down a lighted candle Lesions follow sclerotomes , myotomes that are supplied by particular spinal sensory nerve. Clinical feature : present at late childhood slow , chronic course pain is main presenting symptom monomelic joint contracture , deformity , restricted movement genu varum , genu valgum severe involvement in children lead to premature closure of epiphyses…limb shortening

99. Skin change : scleroderma like atrophy , muscle atrophy anomalous pigmentation vessel , lymphatic occlusion bursitis soft tissue changes may precede osseous findings Radiology usually monomelic ll > ul site – both enchondral , membranous bones are involve long bones , skull , facial bones , ribs , vertebrae , pelvis , scapula endosteal hyperostosis…children periosteal hyperoatosis ….adult both enchondral , membranous bones are involve thick undulating ridges of bone, reminiscent of molten wax confined to sclerotomes , and can be seen apparently flowing across joints to the next bone. Usually along one side Intramedullary extension

100. In pelvis , scapula sclerotic bone in the form of dense radiation from joint Carpals , tarsals – multiple bone islands resemble osteopoikilosis Heterotropic bone formation Soft tissue calcification….lead to bony ankylosis Scintigraphy : increased uptake prsent on late phase of bone scan Association : osteopoikilosis , oateopathia striata , t s , hemangioma , linear scleroderma , avf

101. d/d myositis ossificanse Osteoma Focal sclerodrema Periosteal osteosarcoma Caffey,s disease sclerotic metastasis

102. Osteopathia striata Voorhoeve disease Linear dense striation in metaphyses and diaphyses of bones Clinical feature : ditected incidentally vague pain Radiology : long bones are most commonly involved short tubular bones of hand and feet , skull , ilium , spine usually bilateral length related to rate of growth vertical radiopaque lines in metaphyses extending in some distance in diaphyses ( celery stalk metaphyses ) fan like radiating lines from acetabula to iliac crest….sunburst effect

103. Association : melorrheostosis , osteopetrosis goltz syndrome – focal dermal hypoplasia Scintigraphy : old bone remodeling – not asso with increased uptake d/d : osteopetrosis osteopoikilosis rubella , syphilis , cmv

104. osteopetrosis Rare hereditary and familial bone abnormallity characterized by lack of resorption of normal premitive osteochondral tissue Classification - Malignant - ar Benign or Tarda : Albers- Schönberg Disease = Marble Bone disease - Intermediate form - Associated with Renal tubular acidosis

105. Infantile autosomal recessive osteopetrosis is the more severe form that tends to present earlier. Hence, it is referred to as "infantile" and "malignant“, compared to the autosomal dominant osteopetrosis .

106. Those who survive childbirth present with : failure to thrive cranial nerve entrapment snuffling (nasal sinus architecture abnormalities) hypercalcaemia pancytopenia (anemia, leukopenia and thrombocytopenia) hepatosplenomegaly (extramedullary haemopoesis) intracerebral hemorrhage (thrombocytopenia) lymphadenopathy optic atrophy hearing loss ostomyelitis of mandible CLINICAL FEATURES

107. Pathophysiology : unresponsiveness of osteoclast to pth failure of normal resorptive mechanism premitive calcified cartilag eremain , medullary space is never allowed to form Radiology : generalized sclerosis of skeleton = homogeniosly increased density lack of trabecula little or no differentiation between cortex , medulla striations produce bone with bone appearance skull – macrocrania calvariala , basilar thickening and sclerosis poorly formed sinuses endobones are frequently seen in sphenoid , occipital region

108. Limbs – long bones are sclerotic multiple horizontal fractures vertical , horizontal striations of normal bones interspersed with primitive tissue long tubular bones of hand and feet are also involved metaphyseal flaring Spine – uniformly dense sandwich vertebra – dense bands adjacent to endplates bone within bone Pelvis – multiple dense curved lines paralleling the iliac crest

109. Chest radiograph in an infant demonstrates overall increased density of osseous structures due to accumulation of immature bone. Generalized increased density of bones & alternating areas of increased & decreased density in metaphyses ( bone-within-bone appearance ).

110. Spine radiographs reveal classic sandwich vertebrae of osteopetrosis ( red arrows ). This is manifested as thickening and sclerosis of the vertebral endplates, and of the bone adjacent to the endplates . There is also marked thickening of the posterior vertebrae ( yellow arrows ), especially in the vertebral arch.

111. Lateral radiograph of the skull reveals diffuse thickening of the calvarium , most significant in the region of the occiput. The partially visualized upper cervical vertebrae and maxilla are also dense and thickened.

112. osteopoikilosis Ad Can be present at any age. Pathology : lesions are foci of compact lamellar bone ….that fail to become cancellous during the course of growth an differentiation. Clinical feature : asymptomatic joint pain + -- effusion Radiology : bilateral symmetrical uniform size long tubular bones , carpals , tarsals juxtartcular regions involving both metaphyses an epiphyses in pelvis , scapula lesions are found adjacent to acetabulum and glenoid small round or ovoid opacities d/d – bone island , blastic mets , mastocytosis

113. Skin findings : 25% dermatofibromatosis lenticularis disseminata scleroderma like lesions keloid formation Association : melorrheostosis osteopathia striata Risk for osteosarcome scintography : do not monstrate any uptake

114. Progressive diaphyseal dysplasia Ad Increased osteoblastic activity Fusiform thickening of diaphyses sparing metaphysesa and epiphyses Clinical feature : present in 1 st decade bone tenderness extreme weakness , malnutrition…..usually resolve after adolescent Increase esr , alp , cpk

115. radiology Bilaterally symmetrical Enchondral bone > membranous bones Site : diaphyses of long bones ….. metaphyses , epiphyses are generally spared calvaria , spine , ribs , clavicla pelvis , carpals , tarsals ….. never involve Long bone : widening of diameter of diaphyses encroaching on the medullary canal Cranium : calvarial , basilar sclerosis spine : posterior aspect of vertebral body , posterior arch but without stenosis endosteal involvement is more pronounced than periosteal involvement Complication - increased intracranial pressure , encroachment on cranial nerves

116. PIKNODYSOSTOSIS

117. Ad Similarities with cleidocranial dysplasia , ostteopeteosis Characterized by generalized increase in bone density with preservation of medullary cavity with short stature Radiology : skull – macrocrania numerous wormian bones sutures remain open wide anterior fontanelle Face - small face prominenet forehead beaked nose hypoplastic facial bones and sinuses abnormal dentition , osteomyelitis of mandible

118. Spine – scoliosis hyperlordosis , kyphosis , block vertebrae especially at craniovertebral , lumbosacral junction spool shaped vertebrae spondylolysis of c2 Long bones – osteosclerosis with preservation of medullary cavity transverse fracture madelung deformity Clavicle – hypoplasia or absence of lateral end of clavicle Hand and toe – short and stubby fingers acroosteolysis

119. Pyknodysostosis . (A) The skull shows failure of sutural fusion and sclerosis of the base. The angle of the mandible i s obtuse and the maxilla hypoplastic (see Ch. xx). (B) The lumbar vertebral bodies show a spool shape with quite prominent anterior defects. Overall there is sclerosis

120. Diastrophic dysplasia A type of short limb skeletal dysplasia  relatively increased prevalence in Finland  Radiology : micromelia – rhizomelic type hitch hiker thumb muliple postural deformity , joint contracture kyphoscoliosis long bones – rhizomelic shortening crescent shaped flattened epiphyses club foot cauliflower ear double layered manubrium ....specific for it

121. Asphyxiating thoracic dysplasia   Jeune syndrome , is a type of rare  short limb skeletal dysplasia , which is primarily characterized by a constricted long narrow thoracic cavity, cystic renal dysplasia and characteristic skeletal features Radiology : short narrow elongated chest shape high riding clavicles ( handlebear clavicle) polydactyly ……post axial short limbs ... rhizomelic dysplastic acetabula with flat acetabular roof  typical 3 pont appearance of lower end of plelvis short and flared iliac bones  ischial and pubic bones with medial and lateral spurs

122. Ellis van creveld syndrome Chndroectodermal dysplasia Radiology narrowing of thorax with short ribs polydactyly – tends to be postaxial mild to moderate micromelia – mesomelic type chd – most often asd small , flared ilia medial spur from acetabuli hypoplastic distal phalanges , delayed carpal development , carpal fusion hypoplastic proximal tibial epiphyses , specially laterally cryptorchism , epispadias sparse, absent, or fine textured hair dental malformation

123. dyschondrosteosis Female Madelung deformity Mesomelic limb shortening Hypoplastic febula

124. Dyssegmental dyspalsia Ar Gross vertebral disorganization Radiology : micromelia short , narrow thorax anisospondyly – gross irregularity of size and shape of vertebral bodies , malsegmentation , clefting , kyphoscoliosis gross spine disorganization may be recognized as early as first trimester

125. Proximal focal femoral dysplasia Familial : femur – tibia – radius complex Non –familial : femur – fibula – ulna complex Radiology unilateral absence of subtrochenteric femur , which may extend to the head and acetabulum i /l fibular hemimelia microcephaly vertebral anomaly The role of MR : define the cartilaginous proximal femur and the presence or absence of a cartilaginous connection to the femoral head. Therapeutic decisions are based on the detection of a femoral head and the presence of a connection.

126. sirenomelia Characterized by : fusion of lower extremities absent sacrum anorecta atresia renal dysgenesis r agenesis Associatd with single ua , oligohydramnios

127. Fibrous dysplasia Fibrous dysplasia (FD)  is a non- neoplastic tumour -like congenital process, manifested as a localised defect in osteoblastic differentiation and maturation, with replacement of normal bone with large fibrous stroma and islands of immature woven bone. Types – monostotic ..most common polyostotic ….asymmetric craniofacial cherubism Clinical feature : asympomatic pathological fracture facial asymmetry usually present before 50 years

128. Pathophysiology : medullary cavity is replaced by fibrous tissue , cysts containing serous fluid and blood --- undergoes varying degree of ossification that me be homogeneuos giving ground glass inhomogeneous …cotton wool Radiology : any bone can be involved though involvement of spine is uncommon in the skull frontal , sphenoid , parietal , maxillary , mandible are often affected monostotic ….rib most commonly , long bones…. polyostotic diaphyses lesion are – expansile smooth dense margin multilocular / bubbly cortex is scalloped , thined ground glass or cotton wool sclerosis no periostea reaction cranilfacial type – displaced outer table , inner table is spared shephered crook deformity of femur

129. Complication : osteosarcoma chondrosarcoma mfh fractur e, deformity Associated with : albright syndrome – precautious puberty , fd , skin pigmentation acromegaly hyperthyroidsm cushing syndrome

130. Thank you