Literature DB >> 6702893

The Tel Hashomer camptodactyly syndrome in a consanguineous Brazilian family.

T R Gollop, G M Colletto.   

Abstract

We report on two Brazilian sibs whose parents are first cousins with clinical findings of the Tel Hashomer camptodactyly syndrome, namely, camptodactyly, muscle hypoplasia, skeletal abnormalities, and abnormal palmar creases. Both affected sibs have flat orbital roofs not described in previous cases and a high number of dermatoglyphic arches. The patient's father had camptodactyly of the fifth fingers, possibly a heterozygote manifestation.

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Year:  1984        PMID: 6702893     DOI: 10.1002/ajmg.1320170203

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  2 in total

1.  Tel Hashomer camptodactyly syndrome: report of a case with myopathic features.

Authors:  M A Patton; K D McDermot; B D Lake; M Baraitser
Journal:  J Med Genet       Date:  1986-06       Impact factor: 6.318

Review 2.  The status of dermatoglyphics as a biomarker of Tel Hashomer camptodactyly syndrome: a review of the literature.

Authors:  Buddhika T B Wijerathne; Robert J Meier; Suneth B Agampodi
Journal:  J Med Case Rep       Date:  2016-09-20
  2 in total

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