Occipital atretic cephalocele, striking facial anomalies, and large feet in three siblings of a consanguineous union

Abstract

Here, we report a newly recognized syndrome in three siblings with occipital atretic cephalocele, striking facial anomalies, and large feet. Specific findings include occipital atretic cephalocele, hypoplastic cerebellar vermis, Dandy-Walker variant, mental deficiency, prominent forehead, midface deficiency, broad nose and nasal root, grooved nasal tip, abnormal nares, narrow malformed ears, severe oligodontia, and large wide feet with a gap between the hallux and the second toe. The phenotype is variable in the three patients. The finding of three affected siblings of a consanguineous couple strongly suggests autosomal recessive inheritance.