A new camptodactyly syndrome.

نویسنده

  • M Baraitser
چکیده

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Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.

A syndrome characterized by camptodactyly, distinct facial features, multiple musculoskeletal defects, and unique dermatoglyphic changes is described in two sisters born of consanguineous parents. In 1972 this same constellation of findings was first reported in two sibs from a different ethnic origin. This heritable disorder of connective tissue termed the Tel Hashomer camptodactyly syndrome i...

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The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature

INTRODUCTION Tel Hashomer camptodactyly syndrome is a rare disease and only a few cases have been reported. Dermatoglyphics potentially provide relevant phenotypic biomarkers that were initially noted as a vital clinical feature of this disease. Dermatoglyphics possibly can indicate growth disturbances that took place during early fetal development at the time when epidermal ridges were being f...

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Camptodactyly, cleft palate, and club foot (the Gordon syndrome). A report of a large pedigree.

A second family is described in which camptodactyly, club foot, and cleft palate (the Gordon syndrome) is transmitted in a pattern consistent with autosomal dominant inheritance with reduced penetrance and variable expressivity. Penetrance appears to be more reduced in females than in males, and cleft palate is the least frequently manifested trait.

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Camptodactyly, Arthropathy, Coxa vara, Pericarditis (CACP)Syndrome: A Case Report

The camptodactyly-arthropathy-coxa vara-pericarditis syndrome (CACP) is characterized by congenital or early-onset camptodactyly, childhood-onset noninflammatory arthropathy associated with synovial hyperplasia. Some patients have progressive coxa vara deformity and/or noninflammatory pericardial effusion. CACP is inherited as an autosomal recessive mode and the disease gene is assigned to a 1....

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عنوان ژورنال:
  • Journal of medical genetics

دوره 19 1  شماره 

صفحات  -

تاریخ انتشار 1982