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Al-Awadi/Raas-Rothschild syndrome: two new cases and review
Fortunato Lonardo1, Giovanna Sabba, Daniela Varela Luquetti
1Medical Genetics Department, Gaetano Rummo Hospital, Benevento, Italy.
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.
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