Autosomal dominant occipital cephalocele.
The authors report the clinical and radiographic characteristics of a non-consanguineous Vietnamese kindred with an autosomal dominant form of occipital cephalocele. Affected family members all presented with occipital subscalp bulges at birth. Except for the proband, all individuals were developmentally normal with otherwise normal neurologic examinations. Unaffected family members, including obligate carriers, share no clinical characteristics, demonstrating incomplete penetrance.
Bassuk
Alexander G
AG
Department of Pediatrics/Division of Neurology, Northwestern University, Chicago, IL, USA. abassuk@childrensmemorial.org
McLone
David
D
Bowman
Robin
R
Kessler
John A
JA
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D061085:Agenesis of Corpus Callosum; D002552:Cerebral Ventricles / Q000002:abnormalities; D002648:Child; D004240:Diverticulum / Q000235:genetics; D004677:Encephalocele / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D006849:Hydrocephalus / Q000196:embryology / Q000209:etiology; D007231:Infant, Newborn; D008279:Magnetic Resonance Imaging; D008297:Male; D009777:Occipital Bone / Q000002:abnormalities*; D010375:Pedigree; D019683:Penetrance; D011596:Psychomotor Disorders / Q000235:genetics*