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.