Tibial hemimelia-polydactyly-five-fingered hand syndrome associated with a 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS): a case report.
Tibial hemimelia-polydactyly-triphalangeal thumb syndrome is a distinct congenital limb anomaly complex, whose association with the 404 G>A mutation in a distant sonic hedgehog cis-regulator (ZRS) was suggested. The authors report a sporadic case of bilateral tibial hemimelia-preaxial polydactyly-five-fingered hands harboring the same mutation. This case further supports a causal relationship between this mutation and the phenotype.
Division of Pediatric Orthopaedics, Seoul National University Children's Hospital, Seoul, Republic of Korea. jcho@snu.ac.kr
Tae-Joon
TJ
Cho
Goo Hyun
GH
Baek
Hey-Ran
HR
Lee
Hyuk Joo
HJ
Moon
Won Joon
WJ
Yoo
In Ho
IH
Choi
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging; D004480:Ectromelia / Q000000981:diagnostic imaging / Q000235:genetics*; D005385:Fingers / Q000002:abnormalities; D018507:Gene Expression Regulation, Developmental; D053823:Hedgehog Proteins / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D017354:Point Mutation; D017689:Polydactyly / Q000175:diagnosis / Q000235:genetics*; D011859:Radiography; D035583:Rare Diseases; D013577:Syndrome; D013977:Tibia / Q000002:abnormalities / Q000000981:diagnostic imaging
D053823:Hedgehog Proteins; C509239:SHH protein, human