Literature DB >> 5173335

Metaphyseal dysostosis, conductive hearing loss and mental retardation: a recessively inherited syndrome.

D L Rimoin, W H McAlister.   

Abstract

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.

Entities:  

Mesh:

Year:  1971        PMID: 5173335

Source DB:  PubMed          Journal:  Birth Defects Orig Artic Ser        ISSN: 0547-6844


  3 in total

Review 1.  Metaphyseal chondrodysplasia, Schmid type. Clinical and radiographic delineation with a review of the literature.

Authors:  R S Lachman; D L Rimoin; J Spranger
Journal:  Pediatr Radiol       Date:  1988

Review 2.  Metaphyseal chondrodysplasia.

Authors:  J W Spranger
Journal:  Postgrad Med J       Date:  1977-08       Impact factor: 2.401

3.  Morphology and development of a novel murine skeletal dysplasia.

Authors:  Marta Marchini; Elizabeth Silva Hernandez; Campbell Rolian
Journal:  PeerJ       Date:  2019-07-04       Impact factor: 2.984

  3 in total

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