Journal article
Autosomal dominant occipital cephalocele
Neurology, Vol.62(10), pp.1888-1890
05/25/2004
DOI: 10.1212/01.WNL.0000125255.90915.5C
PMID: 15159504
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.
Details
- Title: Subtitle
- Autosomal dominant occipital cephalocele
- Creators
- Alexander G Bassuk - Department of Pediatrics/Division of Neurology, Northwestern University, Chicago, IL, USA. abassuk@childrensmemorial.orgDavid McLoneRobin BowmanJohn A Kessler
- Resource Type
- Journal article
- Publication Details
- Neurology, Vol.62(10), pp.1888-1890
- Publisher
- United States
- DOI
- 10.1212/01.WNL.0000125255.90915.5C
- PMID
- 15159504
- ISSN
- 0028-3878
- eISSN
- 1526-632X
- Grant note
- R01 HD 39083 / NICHD NIH HHS
- Language
- English
- Date published
- 05/25/2004
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neurology (Pediatrics)
- Record Identifier
- 9984020717702771
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