Abstract
An extended family is described in which four sisters and half sisters presented with ectrodactyly. Two of the sisters had associated agenesis of the tibiae. The paper describes the malformations and discusses the management and possible genetic inheritance involved. An autosomal recessive gene seems likely to be the mode of inheritance.
Full text
PDF




Images in this article
Selected References
These references are in PubMed. This may not be the complete list of references from this article.
- AUERBACH C. A possible case of delayed mutation in man. Ann Hum Genet. 1956 May;20(4):266–269. doi: 10.1111/j.1469-1809.1955.tb01281.x. [DOI] [PubMed] [Google Scholar]
- BARSKY A. J. CLEFT HAND: CLASSIFICATION, INCIDENCE, AND TREATMENT. REVIEW OF THE LITERATURE AND REPORT OF NINETEEN CASES. J Bone Joint Surg Am. 1964 Dec;46:1707–1720. [PubMed] [Google Scholar]
- Bujdoso G., Lenz W. Monodactylous splithand-splitfoot. A malformation occurring in three distinct genetic types. Eur J Pediatr. 1980 May;133(3):207–215. doi: 10.1007/BF00496078. [DOI] [PubMed] [Google Scholar]
- David T. J. Dominant ectrodactyly and possible germinal mosaicism. J Med Genet. 1972 Sep;9(3):316–320. doi: 10.1136/jmg.9.3.316. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Freire-Maia A. A recessive form of ectrodactyly, and its implications in genetic counseling. J Hered. 1971 Jan-Feb;62(1):53–53. doi: 10.1093/oxfordjournals.jhered.a108124. [DOI] [PubMed] [Google Scholar]
- GRAHAM J. B., BADGLEY C. E. Split-hand with unusual complications. Am J Hum Genet. 1955 Mar;7(1):44–50. [PMC free article] [PubMed] [Google Scholar]
- KHOSROVANI H. [Malformations of the hands and feet (ectrodactylia) through five successive generations of a large Vaudois family]. J Genet Hum. 1959 May;8:1–59. [PubMed] [Google Scholar]
- Ray A. K. Another case of split-foot mutation in two sibs. J Hered. 1970 Jul-Aug;61(4):169–170. doi: 10.1093/oxfordjournals.jhered.a108073. [DOI] [PubMed] [Google Scholar]
- STEVENSON A. C., JENNINGS L. M. Ectrodactyly--evidence in favour of a disturbed segregation in the offspring of affected males. Ann Hum Genet. 1960 Apr;24:89–96. doi: 10.1111/j.1469-1809.1959.tb01719.x. [DOI] [PubMed] [Google Scholar]
- VOGEL F. Verzögerte Mutation beim Menschen; einige kritishe Bemerkungen zu Ch. Auerbachs Arbeit (1956). Ann Hum Genet. 1958 Feb;22(2):132–137. doi: 10.1111/j.1469-1809.1957.tb01927.x. [DOI] [PubMed] [Google Scholar]
- Verma I. C., Joseph R., Bhargava S., Mehta S. Split-hand and split-foot deformity inherited as an autosomal recessive trait. Clin Genet. 1976 Jan;9(1):8–14. doi: 10.1111/j.1399-0004.1976.tb01543.x. [DOI] [PubMed] [Google Scholar]




