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.

Abstract

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.

• Authors: Tae-Joon Cho, Goo Hyun Baek, Hey-Ran Lee, Hyuk Joo Moon, Won Joon Yoo, In Ho Choi
• Journal: Journal of pediatric orthopedics. Part B (J Pediatr Orthop B) Vol. 22 Issue 3 Pg. 219-21 (May 2013) ISSN: 1473-5865 [Electronic] United States
• PMID: 22314436 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't, Review)

Chemical References

• Hedgehog Proteins
• SHH protein, human

Topics

• Abnormalities, Multiple (diagnosis, diagnostic imaging)
• Ectromelia (diagnostic imaging, genetics)
• Fingers (abnormalities)
• Gene Expression Regulation, Developmental
• Hedgehog Proteins (genetics)
• Humans
• Infant, Newborn
• Male
• Point Mutation
• Polydactyly (diagnosis, genetics)
• Radiography
• Rare Diseases
• Syndrome
• Tibia (abnormalities, diagnostic imaging)