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.
Lonardo
Fortunato
F
Medical Genetics Department, Gaetano Rummo Hospital, Benevento, Italy.
Sabba
Giovanna
G
Luquetti
Daniela Varela
DV
Monica
Matteo Della
MD
Scarano
Gioacchino
G
D005192:Family Health; D005260:Female; D005333:Fetus / Q000473:pathology; D005808:Genes, Recessive; D005817:Genetic Counseling; D006801:Humans; D017880:Limb Deformities, Congenital / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D010388:Pelvis / Q000473:pathology; D013577:Syndrome