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NEUROLOGY 2004;62:1888-1890
© 2004 American Academy of Neurology
Brief Communications

Autosomal dominant occipital cephalocele

Alexander G. Bassuk, MD PhD, David McLone, MD PhD, Robin Bowman, MD and John A. Kessler, MD

From the Department of Pediatrics/Division of Neurology (Dr. Bassuk), Pediatric Neurosurgery (Drs. McLone and Bowman), and Neurology (Drs. Bassuk and Kessler), Northwestern University, Chicago, IL.

Address correspondence and reprint requests to Dr. A.G. Bassuk, 2300 Children’s Plaza, Children’s Memorial Hospital, Division of Neurology, Box #51, Chicago, IL 60614; e-mail: abassuk{at}childrensmemorial.org

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.

Received September 26, 2003. Accepted in final form January 8, 2004.






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