Document Detail

Acro-renal-mandibular syndrome.
MedLine Citation:
PMID:  7405959     Owner:  NLM     Status:  MEDLINE    
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.
F Halal; M F Desgranges; B Leduc; G Thêorét; P Bettez
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  5     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1980  
Date Detail:
Created Date:  1980-10-21     Completed Date:  1980-10-21     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  277-84     Citation Subset:  IM    
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MeSH Terms
Foot Deformities, Congenital*
Genitalia, Female / abnormalities
Hand Deformities, Congenital*
Infant, Newborn
Kidney / abnormalities*
Mandible / abnormalities*
Orofaciodigital Syndromes / genetics

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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