Source:http://linkedlifedata.com/resource/pubmed/id/21078256
Switch to
Predicate | Object |
---|---|
rdf:type | |
lifeskim:mentions | |
pubmed:issue |
11
|
pubmed:dateCreated |
2010-11-16
|
pubmed:abstractText |
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.
|
pubmed:language |
eng
|
pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
|
pubmed:month |
Nov
|
pubmed:issn |
1022-386X
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
20
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
770-2
|
pubmed:meshHeading |
pubmed-meshheading:21078256-Female,
pubmed-meshheading:21078256-Focal Dermal Hypoplasia,
pubmed-meshheading:21078256-Genetic Diseases, X-Linked,
pubmed-meshheading:21078256-Humans,
pubmed-meshheading:21078256-Infant,
pubmed-meshheading:21078256-Limb Deformities, Congenital,
pubmed-meshheading:21078256-Phenotype
|
pubmed:year |
2010
|
pubmed:articleTitle |
Split hand/split foot deformity with focal dermal hypoplasia (Goltz syndrome).
|
pubmed:affiliation |
Department of Orthopaedics, Orthopaedic Hospital of Speising, Vienna, Austria. ali.alkaissi@osteologie.at
|
pubmed:publicationType |
Journal Article,
Case Reports
|