New Genitourinary Findings in CTNND1 Blepharocheilodontic Syndrome.

Abstract

Blepharocheilodontic syndrome (BCD syndrome) is an autosomal dominant condition characterized by cleft lip/palate, distinct eyelid abnormalities, and ectodermal changes affecting hair and teeth. This report presents a novel case of CTNND1-related BCD syndrome in a 3-year-old female. In addition to the typical features, including unilateral cleft lip/palate and eyelid malformations, the patient exhibited a duplex kidney, ureterocele, and a bicornuate uterus-phenotypic traits not previously associated with BCD syndrome. Whole exome sequencing identified a de novo heterozygous pathogenic splice site variant in CTNND1, confirming the diagnosis. The presence of these additional urogenital anomalies suggests a potential expansion of the BCD syndrome phenotype. This case highlights the need for further investigation into the spectrum of anomalies associated with BCD syndrome, recommending ultrasound evaluation of the urinary tract in newly diagnosed individuals.