Statements in which the resource exists as a subject.
PredicateObject
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: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