Congenital duplication of the palm syndrome: gene analysis and the molecular basis of its clinical features.
Congenital duplication of the palm is a rare syndrome with the following features: the dorsal aspects of both hands have thick palmar skin with no hair or nails; bilateral ulnar ray deficiency; short hypoplastic upper limbs; and severe lower limb abnormalities. In this paper, we report a new case of congenital duplication of the palm syndrome, provide its gene analysis identifying the responsible gene mutation in exon 4 of the WNT7a gene, and detail the molecular basis of its clinical features.
Al-Qattan
M M
MM
Division of Plastic Surgery, King Saud University, Riyadh, Saudi Arabia. moqattan@hotmail.com
Al-Balwi
M
M
Eyaid
W
W
Al-Abdulkarim
I
I
Al-Turki
S
S
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D008297:Male; D009154:Mutation; D013577:Syndrome; D014457:Ulna / Q000002:abnormalities; D051153:Wnt Proteins / Q000235:genetics*
C092778:WNT7A protein, human; D051153:Wnt Proteins