Al‐Awadi/Raas‐Rothschild syndrome: Two new cases and review

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.