Autosomal dominant occipital cephalocele

Alexander G. Bassuk*, David McLone, Robin Bowman, John A. Kessler

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

14 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)1888-1890
Number of pages3
Issue number10
StatePublished - May 25 2004

ASJC Scopus subject areas

  • Clinical Neurology


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