Autosomal dominant occipital cephalocele.
case_series · Level IV
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- Record sourced from PubMed, PMID 15159504.
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Abstract
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.
Medical subject headings
- Encephalocele
- Occipital Bone
- Psychomotor Disorders