The Tel Hashomer camptodactyly syndrome: Report of a new case and review of the literature

We report on a new case of Tel Hashomer camptodactyly syndrome and review the literature. This syndrome is characterized by skeletal dysplasia, muscle hypoplasia, camptodactyly, and abnormal dermatoglyphics. The inheritance is autosomal recessive with probable partial expression in the heterozygote.

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Bibliographische Detailangaben
Veröffentlicht in:	American journal of medical genetics 1988-02, Vol.29 (2), p.411-417
Hauptverfasser:	Pagnan, Nina Amalia Brancia, Gollop, Thomaz Rafael, Lederman, Henrique, Optiz, John M., Reynolds, James F.
Format:	Artikel
Sprache:	eng
Schlagworte:	abnormal dermatoglyphics autosomal recessive inheritance Biological and medical sciences Dermatoglyphics Diseases of the osteoarticular system Facial Asymmetry Fingers - abnormalities Genes, Recessive Humans Malformations and congenital and or hereditary diseases involving bones. Joint deformations Medical sciences Muscular Diseases - complications muscular hypoplasia skeletal dysplasia Syndrome Toes - abnormalities
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Beschreibung
Zusammenfassung:	We report on a new case of Tel Hashomer camptodactyly syndrome and review the literature. This syndrome is characterized by skeletal dysplasia, muscle hypoplasia, camptodactyly, and abnormal dermatoglyphics. The inheritance is autosomal recessive with probable partial expression in the heterozygote.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320290224