TY - JOUR
T1 - Autosomal dominant occipital cephalocele
AU - Bassuk, Alexander G.
AU - McLone, David
AU - Bowman, Robin
AU - Kessler, John A.
PY - 2004/5/25
Y1 - 2004/5/25
N2 - 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.
AB - 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.
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U2 - 10.1212/01.WNL.0000125255.90915.5C
DO - 10.1212/01.WNL.0000125255.90915.5C
M3 - Article
C2 - 15159504
AN - SCOPUS:2442710207
SN - 0028-3878
VL - 62
SP - 1888
EP - 1890
JO - Neurology
JF - Neurology
IS - 10
ER -