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Lango Allen, H., Caswell, R., Xie, W., Xu, X., Wragg, C., Turnpenny, P.D., Turner, C.L., Weedon, M.N. and Ellard, S. (2014) Next Generation Sequencing of Chromosomal Rearrangements in Patients with Split-Hand/Split-Foot Malformation Provides Evidence for DYNC1I1 Exonic Enhancers of DLX5/6 Expression in Humans. Journal of Medical Genetics, 51, 264-267.
http://dx.doi.org/10.1136/jmedgenet-2013-102142

has been cited by the following article:

  • TITLE: A Rare and Severe Case of Split-Hand/Foot Malformation in a Child in India

    AUTHORS: Sunil H. Shetty, Ravindra G. Khedekar, Mishil Parikh, Nikita Shetty

    KEYWORDS: Congenital Limb Deformities, Split-Hand/Split-Foot Malformation, Ectrodactyly

    JOURNAL NAME: Open Journal of Orthopedics, Vol.4 No.6, June 19, 2014

    ABSTRACT: Ectrodactyly, termed Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod (hand/foot). Clinical presentation is with the absence of one or more median rays or digits creating cone shaped clefts of the hands and/or feet. The present case of severe bilateral split-hand and foot malformations was presented in an 8-year-old girl in India. This case of SHFM involves the complete absence of the central rays of the autopod in which each of the hands and each foot is divided into two parts by a coned shape cleft tapering proximally, resembling a “lobster claw”. SHFM is often associated with other limb anomalies including monodactyly, syndactyly and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Most cases are sporadic; however familial forms do exist with pre-dominantly autosomal dominant inheritance. This case is an example of the non-syndromic form of SHFM expressed with isolated involvement of the limbs, while the syndromic form is associated with anomalies as intellectual disability, ectodermal and craniofacial findings and hearing loss. Non-syndromic isolated ectrodactyly does not usually require surgical intervention. We recommended against surgical reconstruction, due to lack of evidence of functional disability.