Metaphyseal dysostosis, conductive hearing loss and mental retardation: a recessively inherited syndrome
Rimoin, D.L.; McAlister, W.H.
Birth Defects Original Article Series 07(4): 116-122
1971
ISSN/ISBN: 0547-6844 PMID: 5173335 Document Number: 39502
These brothers, the offspring of a consanguineous mating, were found to have short-limbed dwarfism, metaphyseal dysostosis, conductive hearing loss and mild mental retardation. This syndrome, which appears to be inherited as an autosomal recessive trait, is distinct from the previously described forms of metaphyseal dysostosis.