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Ectrodactyly/split hand feet malformation.

ABSTRACT: Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation.

SUBMITTER: Jindal G

PROVIDER: S-EPMC2922631 | biostudies-other | 2009 Sep

REPOSITORIES: biostudies-other

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Ectrodactyly/split hand feet malformation.

Jindal Geetanjali G Parmar Veena R VR Gupta Vipul Kumar VK

Indian journal of human genetics 20090901 3

Split-hand/split-foot malformation is a rare limb malformation with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals. When present as an isolated anomaly, it is usually inherited as an autosomal dominant form. We report a case of autosomal recessive inheritance and discuss the antenatal diagnosis, genetic counseling and treatment for the malformation. ...[more]

PMID: 21088720

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Split-hand/split-foot malformation is caused by mutations in the p63 gene on 3q27.

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