Genetic and clinical heterogeneity in the oral-facial-digital syndromes

Published on Jul 1, 1967in The Journal of Pediatrics3.7
· DOI :10.1016/S0022-3476(67)80236-1
David L. Rimoin4
Estimated H-index: 4
(JHUSOM: Johns Hopkins University School of Medicine),
Milton T. Edgerton6
Estimated H-index: 6
(JHUSOM: Johns Hopkins University School of Medicine),
Edgerton Mt6
Estimated H-index: 6
(JHUSOM: Johns Hopkins University School of Medicine)
Sources
Abstract
The association of oral, facial, and digital malformations has become known as the oral-facial-digital (OFD) syndrome. This syndrome is currently considered to be inherited as an X-linked dominant trait, manifested only in female subjects and lethal in themale. This paper documents the presence of OFD malformations in one girl and her two male siblings. It is concluded that this symptom complex represents at least two distinct genetic entities: OFD I, inherited as an X-linked or sex-limited autosomal dominant; and OFD II (Mohr syndrome), probably inherited as an autosomal recessive.
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