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Multiple epiphyseal dysplasia tarda
Author(s) -
Gamboa Ivanhoe,
Lisker Rubén
Publication year - 1974
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1974.tb00624.x
Subject(s) - offspring , autosomal recessive inheritance , inheritance (genetic algorithm) , genetics , consanguinity , dysplasia , disease , biology , genetic inheritance , medicine , pregnancy , pathology , gene
The pedigree is described of a Mexican family with multiple epiphyseal dysplasia tarda (MEDT) suggestive of autosomal recessive inheritance. The parents were probably consanguineous and three of the five siblings of the propositus had the disease. The affected individuals had a total of 13 normal offspring, which makes dominant inheritance quite unlikely. Although most cases of MEDT follow an autosomal dominant pattern there are several families like that presented here, which suggests that this condition is heterogeneous.