| Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome). | |
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MedLine Citation:
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PMID: 21078256 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We report on a-6-months-old girl who manifested the phenotypic features of focal dermal hypoplasia. Significant limb deformities in connection with typical skin changes were documented. The family history had a high frequency of spontaneous abortions and male stillbirths. Male stillbirths are a landmark in favour of X-linked dominant pattern of inheritance. Despite the severe hand/foot deformities, the skull base and the tubular bones were sclerotic. |
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Authors:
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Ali Al Kaissi; Hatem Safi; Maher Ben Ghachem; Franz Grill |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Journal of the College of Physicians and Surgeons--Pakistan : JCPSP Volume: 20 ISSN: 1022-386X ISO Abbreviation: J Coll Physicians Surg Pak Publication Date: 2010 Nov |
Date Detail:
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Created Date: 2010-11-16 Completed Date: 2011-01-20 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9606447 Medline TA: J Coll Physicians Surg Pak Country: Pakistan |
Other Details:
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Languages: eng Pagination: 770-2 Citation Subset: IM |
Affiliation:
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Department of Orthopaedics, Orthopaedic Hospital of Speising, Vienna, Austria. ali.alkaissi@osteologie.at |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Female Focal Dermal Hypoplasia / complications*, diagnosis*, genetics Genetic Diseases, X-Linked / complications, genetics, radiography Humans Infant Limb Deformities, Congenital / complications, genetics, radiography Phenotype |
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