Premium
Al‐Awadi/Raas‐Rothschild syndrome: Two new cases and review
Author(s) -
Lonardo Fortunato,
Sabba Giovanna,
Luquetti Daniela Varela,
Monica Matteo Della,
Scarano Gioacchino
Publication year - 2007
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.31712
Subject(s) - rothschild , medicine , dermatology , archaeology , history
Abstract 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. © 2007 Wiley‐Liss, Inc.