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Evidence for autosomal recessive inheritance of costovertebral dysplasia
Author(s) -
Cantú J. M.,
Urrusti J.,
Rosales G.,
Rojas A.
Publication year - 1971
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.1399-0004.1971.tb00270.x
Subject(s) - phenocopy , autosomal recessive inheritance , inheritance (genetic algorithm) , genetics , dysplasia , skeleton (computer programming) , osteochondrodysplasia , genetic disorder , medicine , biology , anatomy , phenotype , gene
Hereditary costovertebral dysplasia was ascertained in five children of two related sibships in a pattern consistent with autosomal recessive inheritance. Clinical and radiological studies showed abnormalities limited to the axial skeleton and ribs. Genetic heterogeneity, evident from the fact that an indistinguishable disorder has been reported as dominant, is important in relation to genetic counseling. A phenocopy caused by teratologic agents should also be considered, since the same malformation has been produced in experimental mammals.