New Genitourinary Findings in CTNND1 Blepharocheilodontic Syndrome.

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.

Cranial and spinal nerve enhancement in SURF1-associated Leigh syndrome.

A 23-month-old boy with poor growth, developmental delay, and hypotonia presented with acute onset of ataxia and fatigue. Magnetic resonance imaging (MRI) of the brain and spinal cord was performed as part of diagnostic work-up. MRI showed bilateral symmetrical lesions in basal ganglia, midbrain, and brainstem consistent with Leigh syndrome.