Cleft palate lateral synechia syndrome: an opportunity for unique surgical closure

Abstract

Objectives: To report two cases of cleft palate lateral synechia (CPLS) syndrome in a single family and describe surgical closure using the synechia.

Study design: Case report and literature review.

Methods: A case report is presented with a review of the literature of cleft palate in conjunction with lateral synechia. Clinical presentation with photographic images of surgical repair is presented as well as a genetic workup with pedigree.

Results: A 6-week-old male presented for evaluation of a cleft palate. Mucosa-lined, fibromuscular tissue bands were noted connecting the floor of mouth and the free edges of a bilateral complete secondary cleft palate. No other craniofacial, digital, genital or limb defects were noted. The patient's 13-month-old sister had similar synechial bands and cleft palate at birth. Another older sibling had cleft palate without synechia. The patient's mother and maternal great grandmother had cleft palates at birth without synechia. The three children share a common mother but have three different fathers. Genetic analysis failed to reveal chromosomal defects or a mutation in the interferon regulatory factor 6 (IRF6) gene, a locus linked to Van der Woude syndrome. At 2 years of age, the index patient was growing and feeding well. His intra-oral bands remained intact and were incorporated in the surgical repair using a novel approach.

Conclusions: Since more otolaryngologists are performing cleft surgeries, the awareness of the differential diagnoses associated with a cleft palate is important. CPLS is an extremely rare condition. The report of this family supports the suspected pattern of autosomal dominant inheritance with variable expressivity. The unusual surgical approach will be discussed.