title: Confirmation of the Zechi-Ceide syndrome.
abstract: 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.
authors.affiliation: Centre for Molecular and Metabolic Diagnostics & Research, Narayana Hrudayalaya Hospitals, Bangalore, India. drsjpatil@gmail.com
authors.forename: Siddaramappa J
authors.initials: SJ
authors.lastname: Patil
authors.forename: Venkatraman
authors.initials: V
authors.lastname: Bhat
authors.forename: Ashwin
authors.initials: A
authors.lastname: Dalal
authors.forename: J Samuel
authors.initials: JS
authors.lastname: Santosh
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002648:Child; D019066:Facies; D005190:Family; D005260:Female; D006720:Homozygote; D006801:Humans; D040582:Inheritance Patterns; D007621:Karyotyping; D008297:Male; D059906:Neuroimaging; D010641:Phenotype; D035781:Siblings; D013577:Syndrome