ENT CASE DISCUSSION for cleft upper lips

Cleft lip

1. Case presentation block 1a ANKITA AMRITA ASHLEY CLARA JAMES DENIN SAVIO DALTON DERIN SAVIO DALTON

2. IDENTIFYING DATA NAME: A.E AGE: 5 WEEK OLD SEX: MALE ADDRESS: MANILA BIRTH ORDER: FIRST-BORN, G1P2(1001)

3. CHIEF COMPLAINT CLEFT LIP AND PALATE

4. HISTORY OF PRESENT ILLNESS(HPI) The patient is a 5-weeks old, male, and is a known case of complete cleft lip and palate. The patient was born full-term. 40 weeks AOG by LMP to a 21 years old G1P2 (1001) mother via spontaneous vaginal delivery at a government hospital. Birth weight is 2865g, birth length 52, appropriate for gestational age with 1 loose loop of cord. A score are 9 and 9 on the 1st and 5th minutes. Cleft lip and palate were noted. Patient had no subjective complaints since her last consult. No colds, cough, fever, vomiting, diarrhea, and seizure.

5. MEDICATIONS The patient is not reported to be on any medications ALLERGIES No known allergies

6. ADDITIONAL QUESTIONS  Feeding: How is the patient feeding? Is he using a specialized bottle or nipple for cleft lip and palate?  Growth: Has the patient been gaining weight appropriately since birth? (Provide weight measurements at each visit.)  Follow-Up: When is the next appointment scheduled for surgical evaluation or management? Respiratory: Does patient have any shortness of breath or difficulty of breathing? Developmental Milestones: Has the patient met any expected developmental milestones for his age?  Immunizations: Has the patient received any vaccinations? Support Services: Is the family receiving any support services (e.g., feeding specialists, counseling) related to the cleft condition?

7. Maternal history • Menarche at 14 years old, regular, 3-4 days duration, consuming 3-4 fully-soaked pads, (+) dysmenorrheal Obstetric history • G1: current pregnancy, had regular prenatal check-ups at UERM-OPD, prescribed with Folic Acid and mul ti vitamins, (+) colds during the 2nd and 3rd trimesters but no medica tio ns were taken Gynecologic History • (+) bacterial infection at 4 months AOG, characterized as having white vaginal d/c, treated with unrecalled vaginal suppositories and was resolved, (-) UTI, (-) STD, (-) Abnormal Vaginal d/c and bleeding Sexual History • Coitarche at 18 y/o, 1 sexual partner, no dyspareunia and post-coital bleeding Contraceptive History • None

8. PAST MEDICAL HISTOR Y The patient is a known case of complete cleft lip and palate. Past medical conditions: (-) Hypertension (HTN), (-) Diabetes Mellitus (DM), (-) Asthma, (-) Allergies.  No evidence of other comorbidity noted. Related question 1.What are the patient's previous medical conditions? 2. Are there any associated comorbidities (e.g., hypertension, diabetes, asthma) that could influence treatment?

9. FAMILY HISTORY (+) Family History: Nephew on the maternal side has cleft palate. (-) Diabetes Mellitus (DM), (-) Hypertension (HTN), (-) Cancer (CA), (-) Asthma, (-) Allergies. RELATED QUESTIONS 1.Is t here a family history of cleft lip, cleft palate, or other congenital anomalies? 2.Are there any hereditary conditions such as diabetes, hypertension, or cancer in the family? PERSONAL AND SOCIAL HISTORY • Non-smoker and Non-alcoholic drinker; no history of illicit drug use.

10. REVIEW OF SYSTEMS (-) headache, fever, vomiting (-) abdominal pain, diarrhea (-) joint pains (-) rashes

11. PHYSICAL EXAMINATION EAR Translucent, shiny normal tympanic membrane. No abnormalities found. NOSE Presence of the cleft involving the nasal structure. ORAL CAVITY: Clearly visible complete cleft lip and palate. NECK No abnormal neck structure visible.

12. SALIENT FEATURES Birth weight is 2865g, birth length 52 APGAR Scores: 9 (1st minute) and 9 (5th minute) Loose loop of umbilical cord noted. Presence of bacterial infection at 4 months AOG in Maternal History Nephew on maternal side presence with cleft palate Nasal septum deviation Obstruction on right side of nostril

13. 1. What is your clinical impression? Right unilateral complete cleft lip and palate in a 5 week-old male infant. 2. What are the risk factor for developing cleft lips/palates? Genetic predisposition: Family history of cleft lip/palate. Maternal factors: Poor maternal nutrition, smoking, alcohol us e, and certain medications during pregnancy. Environmental factors: Exposure to certain chemicals or infections during pregnancy.

14. ETIOLOGY Cleft lip and palate occur due to failure of fusion of facial structures during early embryonic development. The causes are multifactorial, involving: 1 . Genetic Factors • Family history (as seen in this case). • Mutations in genes like MSX1, IRF6, TGFA. • Can be part of syndromes (e.g., Pierre Robin sequence). 2. Maternal & Environmental Facto rs • Folic acid deficiency • Maternal infections (e.g., rubella, bacterial infection at 4 months AOG in this case). • Teratogenic drugs ( antiepileptics , isotretinoin , methotrexate). • Smoking, alcohol, or radiation exposure. • Maternal illnesses (e.g., diabetes, obesity). 3. Embryological Basis • Cleft Lip: Failure of medial nasal and maxillary prominences to fuse (4th–7th week). • Cleft Palate: Failure of palatal shelves to fuse (8th–12th week

15. DIFFERENTIAL DIAGNOSIS

16. PIERRE ROBIN’S SEQUENCE Pierre Robin’s sequence- The sequence is c haracterized by a combination of a cleft palate, micrognathia (small jaw), and glossoptosis (downward displacement of the tongue), which can lead to airway obstruction.

17. STICKLER’S SYNDROME It is associated with progressive SNHL and/or conductive loss ( eustachian tube dysfunction due to cleft palate), with myopia and/or retinal detachment, cataracts, marfanoid habitus, joint hypermobilization , and early arthritis (+) family history of cleft palate

18. VAN DER WOUDE’S SYNDROME It is an autosomal dominant disorder associated with cleft lip and/or cleft palate, lower lip pits, absent central/lateral incisors, canines, bicuspids, developmental delay, hypospadias, cryptorchidism and hernia s.

19. WHAT IS THE THALLWITZ CLASSIFICATION? The Thallwitz classification is based on embryologic development and anatomical involvement of clefts:  Primary Cleft Palate: Involves structures anterior to the incisive foramen, such as the upper lip and alveolus. Examples: Unilateral or bilateral cleft lip.  Secondary Cleft Palate: nvolves structures posterior to the incisive foramen, such as the hard and soft palate. Complete Cleft Palate : Extends from the lip through the alveolus and palate, involving both primary and secondary palates.

20. WHAT IS VEAU CLASSIFICATION? The Veau classification categorizes cleft palates based on the extent and location of the defect: Class I: Cleft of the soft palate only. Class II: Cleft of the hard and soft palates, up to the incisive foramen. Class III: Complete unilateral cleft of the soft palate, hard palate, alveolus, and lip. Class IV: Complete bilateral cleft of the soft palate, hard palate, alveolus, and lip.

21. TREATMENT AND MANAGEMENT What is the ideal age for performing surgery in infants with cleft lip? cleft palate? What is the rule of 10? Cleft lip surgery- 3-6 months of age Cleft palate surgery-12-18 Months of age Criteria (based on the "rule of tens") At least 10 weeks old Weighing at least 10 pounds (4.5 kg) Hemoglobin level of at least 10 g/dL white blood cell count <10,000/mm 3 before undergoing surgery

22. Basic treatment plan for cleft lip and palate (from birth to teenage years). Management of cleft lip and palate can be divided into following stages:  Stage I- treatment done from birth to 18 month of age  Stage Il- from 18th month to 5th year of life (primary dentition stage)  Stage III- treatment carried out during mixed dentition stage from 6th to 11th year of life  Stage IV- treatment done during permanent dentition stage (12-18 years)

23. Stage I Goals: Restore feeding ability and ensure normal growth. Address the cleft lip and palate to improve appearance and function. Interventions: 1. Presurgical Orthopedic Treatment: Use of nasoalveolar molding (NAM) to reduce the cleft gap and shape the alveolar ridges before surgery. Helps align tissues for better surgical outcomes. 2. Cleft Lip Repair (3-6 months): Achieves closure of the lip to improve facial aesthetics and facilitate feeding. Age 6 months - Presurgical orthodontics, if necessary; first speech evaluation

24.  Cleft Palate Repair : Closure of the palate(9-12 months) to allow normal speech development and separate the oral and nasal cavities. Age 9 months - Speech therapy begins Feeding Support: Specialized bottles or feeding plates to assist with nutrition. Hearing Evaluation: Regular monitoring for middle ear infections and hearing issues due to Eustachian tube dysfunction.

25. Stage ii(Primary dentition stage Support speech and language development. • Monitor dental and facial growth. Interventions: Speech Therapy: Regular evaluation and therapy to address potential speech delays or abnormalities. Dental Care: Maintenance of primary teeth and early intervention if dental abnormalities (e.g., missing teeth, misalignment) are present. Hearing and ENT Monitoring: Continued surveillance for otitis media and possible placement of tympanostomy tubes if required.) Orthodontic Evaluation: Initial orthodontic consultations to assess dental arch alignment.

26. Stage III (Mixed dentition stage) Goals: Address dental alignment and maxillary growth. Prepare for definitive corrective procedures.  Interventions: 1. Alveolar Bone Grafting (around 8-10 years): Performed when permanent canines are about to erupt. Provides support for teeth in the cleft area and stabilizes the maxilla. 2. Orthodontics: Management of mixed dentition to align teeth and prepare for future dental work or surgeries. 3. Speech and Language Therapy: Continued therapy as needed for persistent speech issues

27. Stage IV (Permanent dentition stage) Goals:  Finalize dental and facial aesthetics.  Address any residual functional issues.  Interventions: Orthognathic Surgery: Corrective jaw surgery to align the maxilla and mandible if significant discrepancies exist.  Orthodontics: Final alignment of permanent teeth and preparation for prosthodontic work if necessary.  Rhinoplasty (if needed): Secondary nasal surgeries to improve aesthetics and nasal function.

28. Parental counseling  Ensure adequate feeding and nutrition  Cleft lip and alveolus-often feed normally by bottle or breast  Complete cleft lip or palate-often have feeding problems initially. Inability to generate sufficient seal around the nipple  Increased work of feeding and swallowing of air .

29. To which specialties will you refer you patient for co-management? Pediatrician: For overall health monitoring. Plastic Surgeon : For surgical repair of the cleft lip and palate. Otolaryngologist: For ear, nose, and throat issues. Speech Therapist: For speech and language development. Orthodontist: For dental and jaw alignment. Geneticist: For genetic counseling and evaluation Psychologist/counselor: provide emotional and psychological support to the child and the family. Nutritionist

30. COMPLICATIONS 1. Hemorrhage: - Primary or secondary hemorrhage (bleeding) is rare but may require a return to the operating room (OR) for management if it occurs. 2. Oronasal Fistula: - An oronasal fistula is an abnormal connection between the oral and nasal cavities that can develop after cleft palate repair. - It is managed with secondary repair (additional surgery). 3. Velopharyngeal Insufficiency (VPI): - VPI occurs when the velopharyngeal sphincter fails to close properly, leading to incomplete separation of the nasal and oral cavities.

31. PROGNOSIS Cleft Palate (with cleft lip): Prognosis is good but may require ongoing interventions for speech, hearing, and dental issues. 1.Timely Surgical Repair 2. Access to Multidisciplinary Care 3. Parental Support and Education