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The Dyggve – Melchior – Clausen syndrome in adult siblings
Author(s) -
Bonafede R. P.,
Beighton P.
Publication year - 1978
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.1399-0004.1978.tb02056.x
Subject(s) - consanguinity , dwarfism , autosomal recessive inheritance , inheritance (genetic algorithm) , medicine , mental deficiency , pediatrics , genetics , biology , gene , psychiatry
The clinical and radiographic features of three adult siblings with mental deficiency and dwarfism due to the Dyggve‐Melchior‐Clausen syndrome are documented. The consanguinity of the unaffected parents is further evidence to support the concept of autosomal recessive inheritance of this disorder. The fact that this is the fifth reported kindred of Lebanese extraction emphasises the geographic predilection of the abnormal genes.