Wiley, The American Journal of Medical Genetics - Part A, 24(143A), p. 3169-3174, 2007
DOI: 10.1002/ajmg.a.31712
Full text: Download
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. (C) 2007 Wiley-Liss, Inc.