Split hand/split-foot malformations: a report of four cases in a family with variable presentations

Sagar Bharatlal Jaiswal; Sanjay Jayantilal Soni; Chirag D. Patel; Ashish J. Suthar

doi:10.18203/2320-6012.ijrms20150844

Authors

Sagar Bharatlal Jaiswal Department of Orthopaedics, SSG Hospital, Vadodara, Gujarat
Sanjay Jayantilal Soni Department of Orthopaedics, SSG Hospital, Vadodara, Gujarat
Chirag D. Patel Department of Orthopaedics, SSG Hospital, Vadodara, Gujarat
Ashish J. Suthar Department of Orthopaedics, SSG Hospital, Vadodara, Gujarat

DOI:

https://doi.org/10.18203/2320-6012.ijrms20150844

Keywords:

Split hand, Split foot, Malformation

Abstract

Split hand/split-foot malformation is a congenital anomaly with failure of development of the central digital rays of hand or foot to a variable extent. It is characterized by hypoplasia/aplasia of the phalanges, toes, metacarpals and metatarsals. The presentation may be an isolated anomaly or may be associated with syndrome and thus have variable pattern of inheritance. We report a family of 10 members; four of which are affected with autosomal recessive pattern of inheritance. We discuss here the clinical presentation, genetic inheritance, prenatal diagnosis and treatment for the malformation.

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References

Ozen RS, Baysal BE, Devlin B, Farr JE, Gorry M, Ehrlich GD, et al. Finemapping of the split-hand/split-foot locus (SHFM3) at 10q24: evidence for anticipation and segregation distortion. Am J Hum Genet. 1999;64:1646-54.

Gul D, Oktenli C. Evidence for autosomal recessive inheritance of split hand/split foot malformation: a report of nine cases. Clin Dysmorphol. 2002;11:183-6.

Ahmad M, Abbas H, Haque S, Flatz, G. X-chromosomally inherited split-hand/split-foot anomaly in a Pakistani kindred. Hum Genet. 1987;75:169-73.

Wikipedia. Vadoma. Available at: http://en.wikipedia.org/wiki/Vadoma#column-one#column-one. Accessed 13 June 2007.

Pinette M, Garcia L, Wax JR, Cartin A, Blackstone J. Familial ectrodactyly. J Ultrasound Med. 2006;25:1465-7.

Zlotogora J. On the inheritance of the split hand/split foot malformation. Am J Med Genet. 1994;53:29-32.

Verma IC, Joseph R, Bhargava S, Mehta S. Split-hand and split-foot deformity inherited as an autosomal recessive trait. Clin Genet. 1976;9:8-14.

Ray AK. Another case of split foot mutation in sibs. J Hered. 1960;61:169-70.

Freire-Maia A. A recessive form of ectrodactyly and its implications in genetic counselling. J Hered. 1971;62:53.

Klein IJ. Hereditary ectrodactylism in siblings. Am J Dis Child. 1932;43:136-42.

Zlotogora J, Nubani N. Is there an autosomal recessive form of the split hand and split foot malformation? J Med Genet. 1989;26:138-40.

Arbués J, Galindo A, Puente JM, Vega MG, Hernández M, de la Fuente P. Typical isolated ectrodactyly of hands and feet: early antenatal diagnosis. J Matern Fetal Neonatal Med. 2005;17:299-301.