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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
|
pubmed:dateCreated |
1980-10-21
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pubmed:abstractText |
We report two female sibs, with severe split-hand/split-foot malformation associated with renal and genital anomalies. The patients also have severe mandibular hypoplasia and some other, minor anomalies. The relationship to the acro-renal "syndrome" in particular and to other phenotypes with similar malformations in general is discussed. Because of consanguinity in the parents, autosomal recessive inheritance seems likely. However, the presence of a septate uterus in the mother and a double collecting system in the only living sib could also suggest possible dominant inheritance with variable expressivity.
|
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
|
pubmed:status |
MEDLINE
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pubmed:issn |
0148-7299
|
pubmed:author | |
pubmed:issnType |
Print
|
pubmed:volume |
5
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
277-84
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:7405959-Consanguinity,
pubmed-meshheading:7405959-Female,
pubmed-meshheading:7405959-Foot Deformities, Congenital,
pubmed-meshheading:7405959-Genitalia, Female,
pubmed-meshheading:7405959-Hand Deformities, Congenital,
pubmed-meshheading:7405959-Humans,
pubmed-meshheading:7405959-Infant, Newborn,
pubmed-meshheading:7405959-Kidney,
pubmed-meshheading:7405959-Mandible,
pubmed-meshheading:7405959-Orofaciodigital Syndromes,
pubmed-meshheading:7405959-Pedigree
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pubmed:year |
1980
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pubmed:articleTitle |
Acro-renal-mandibular syndrome.
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pubmed:publicationType |
Journal Article,
Case Reports
|