Camptodactyly: occurrence in two new genetic syndromes and its relationship to other syndromes.
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The purposes of this communication will be to give a detailed clinical account of each syndrome and to discuss the possible significance and relationship of camptodactyly in various genetically determined conditions.Abstract:
The term camptodactyly was coined by Landouzy (1906) to describe a form of contractures of the fingers. The aetiology of this defect is heterogeneous; it may be either genetic or occur as a sporadic event of unknown cause (Gordon, Davies, and Berman, 1969). It is further known that several independent heritable disorders are associated with camptodactyly (Welch and Temtamy, 1966). Recently we have studied two separate families each of which presented with camptodactyly. The main constellation of findings in addition to camptodactyly were identical in the affected members of each family, but one family differed markedly from the other. Since we have been unable to find previous reports describing these observations they seem to represent two new genetic syndromes. The purposes of this communication will be to give a detailed clinical account of each syndrome and to discuss the possible significance and relationship of camptodactyly in various genetically determined conditions.read more
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Genetic Diseases of the Skin
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Camptodactyly, with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases: Tel Hashomer camptodactyly syndrome.
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References
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Journal Article
Heritable disorders of the connective tissue
TL;DR: The remainder of the book is devoted to detailed clinical descriptions of the rare syndromes previously enumerated, together with a full account of what is known of their mode of inheritance.
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Focal dermal hypoplasia syndrome. A review of the literature and report of two cases.
TL;DR: Evidence suggests that the focal dermal hypoplasia syndrome is genetically determined, and some cases of localized congenital absence of the skin may represent incomplete forms.