Document Detail

Al-Awadi/Raas-Rothschild syndrome: two new cases and review.
MedLine Citation:
PMID:  17431918     Owner:  NLM     Status:  MEDLINE    
Al-Awadi/Raas-Rothschild syndrome, an autosomal recessive disorder, is characterized by severe malformations of the upper and lower limbs, and a hypoplastic pelvis. We describe two new cases with the typical manifestations, report some new findings, review the relevant literature, and present minimal criteria for the diagnosis. A single homozygous WNT7A mutation was identified by Woods et al. [2006]: 1179C --> T, resulting in Arg292Cys with complete loss of WNT7A function.
Fortunato Lonardo; Giovanna Sabba; Daniela Varela Luquetti; Matteo Della Monica; Gioacchino Scarano
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  143A     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2007 Dec 
Date Detail:
Created Date:  2007-12-06     Completed Date:  2008-01-02     Revised Date:  2008-05-21    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  United States    
Other Details:
Languages:  eng     Pagination:  3169-74     Citation Subset:  IM    
Copyright Information:
(c) 2007 Wiley-Liss, Inc.
Medical Genetics Department, Gaetano Rummo Hospital, Benevento, Italy.
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MeSH Terms
Family Health
Fetus / pathology
Genes, Recessive
Genetic Counseling
Limb Deformities, Congenital / diagnosis*,  genetics*
Pelvis / pathology

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