Cleft Craniofacial 1/19

In a patient with a cleft lip, which of the following is a feature of the lower lat on the cleft side compared to the non-cleft side?

• Vertical orientation of nostril

• Elongated lateral crus

• Decreased size and width of entire cartilage

• Pointed dome

Answer explanation

The lower lat on the cleft side is the same size and length of the non-cleft side but has a shortened medial crus, elongated lateral crus, blunted dome, and posteriorly/inferiorly/laterally displaced alar bse

A mother delivers at 36 5/7 weeks to a male infant. APGAR are 7 and 9 at 1 and 5 minutes, respectively. The patient is found to have a cleft lip and difficulty forming a latch and requires supplemental feeding via DHT. At what time should this be repaired

• 1 month

• 3 months

• 10 months

• 1 year

Answer explanation

The rule for repair of cleft lip is 10,10, and 10

Repair should be performed once the child has a hgb of 10, weighs 10 lb, and is 10 weeks old

What is the most important aspect of cleft lip and palate care to address first?

• ETD

• cleft lip

• cleft palate

• dysphagia

Answer explanation

Feeding, otologic, and speech evaluations should be performed prior to surgical intervention in a patient with cleft lip and palate.

A 9 month old patient is brought in for evaluation of hearing loss. On exam he has cleft palate, prominent adenoid tissue, 2+ tonsils, and a middle ear effusion, which has been documented for the last 3 months., In addition to palatoplasty, what surgery would be recommended?

• PE tubes

• PE tubes and adenoids

• T&A

• no further surgery

Answer explanation

Most children with cleft palate will require at least 1 set of PE tube due to ETD as a result of abnormal attachement of palatal muscles including tensor palitni and levator veli palitini. Adenoidectomy would be contraindicated as the adenoid bed can help with closure of the velum and minimization of VPI.

Which of the following is true regarding unilateral cleft lip and palate deformity?

• The caudal septum deviates to the cleft side

• The nasal ala on the cleft side is superiorly displaced

• The nasal tip deviates to the cleft side

• The columella deviates to the noncleft side

Answer explanation

In cleft lip nasal deformities, the columella, caudal septum and nasal tip deviate to the non-cleft side. The nasal ala is inferiorly displaced relative to the non-cleft side.

A 32 year old is brought to your clinic for evaluation hearing loss. He has a history of cleft palate repair. Exam shows a flattened midface. He describes a long history of early onset arthritis as well as hyperflexibility. What is the most likely diagnosis?

• Van der Woude syndrome

• Stickler syndrome

• Treacher Collins syndrome

• Livermore syndrome

Answer explanation

Van der Woude syndrome is characterized by cleft lip and/or palate, hypodontia, archer palate, congenital heart disease, and syndactyly

Stickler syndrome is a collagen disorder characterized by cleft palate, hearing loss, flattened midface, and myopia.

Treacher Collins is characterized by cleft palate, midface hypoplasia, micrognathia, hearing loss, and malformed ears.

Mrs. Livermore was Julia's third grade teacher

An otherwise healthy 10 week old male presents with severe obstructive apnea secondary to Pierre Robin Sequence. During parental teaching, they inquire as to the pathogenesis. PRS is caused by:

• Laryngomalacia

• Macroglossia

• Mandibular hypoplasia

• Cleft palate

Answer explanation

In PRS, mandibular hypoplasia causes glossoptosis which interrupts fusion of the palata shelves during development and results in a cleft palate.

A 6 yo with a hx of Pierre Robin Sequence and a trach presents for evaluation. He has been growing and is doing well. The mother is requesting removal of the trach. What is the recommended course of action"

• Decannulate in clinic with a 24 hr obs

• Schedule the patient for an operative bronchoscopy

• Recommend distraction prior to decannulation

• Cap the trach and send the patient for a PSG

• Advise that children with PRS rarely, if ever, get decannulated

Answer explanation

By age 6, the need for trach tube in PRS has usually resolved due to the growth of the mandible and midface. Bronchoscopy is less helpful in assessing retrognathia and would not be the initial consideration. MDO would likely not be required prior to decannulation on a 6 year old.

These patients can be considered for decannulation if the issue necessitating trach is resolved, a PSG while capped shows no obstructions/desats, and the patient tolerates downsizing.

What is the mode of transmission of COL2A1 gene mutation seen in Stickler syndrome?

• mitochondria

• X-linked recessive

• X-linked dominant

• Autosomal recessive

• Autosomal dominant

Answer explanation

Stickler is caused by various collagen gene mutations. There are 4 types, and 3/4 are autosomal dominant including type 1 (COL2A1 mutation).

An infant is born at 39 weeks with a cleft palate. Approximately 3 hours after delivery he begins to have convulsions and develops respiratory failure. Lave values demonstrate profound hypoCa. Which of the following is likely to be found in this patient?

• Failure of B cell differentiation

• Deficiency of mature T and B cells

• Low IgA levels

• No maturation of T cells

• IgM deficiency

Answer explanation

The newborn is developing tetany in the setting of absence of parathyroids. His symptoms are characterized by DiGeorge syndrome.

CATCH-22: cardiac, abnormal faces (hypertelorism), thymic aplasia (no maturation of T cells), cleft palate, and hypoparathyroidism (often presenting as tetany from hypoCa)