Confirmation of the Zechi-Ceide syndrome

摘要

Atretic cephaloceles associated with multiple congenital anomalies are known to follow either autosomal dominant or autosomal recessive patterns of inheritance. Zechi-Ceide syndrome (OMIM 612916) is an autosomal recessive disorder, characterized by an occipital atretic cephalocele, characteristic facial features, and large feet. Here we describe a patient with findings fitting Zechi-Ceide syndrome, in whom some of the manifestations were also present in his mother, indicating either autosomal dominant inheritance with variable expression, X-linked inheritance, or a manifesting carrier of an autosomal recessive inheritance.