Literature DB >> 8753671

Mental retardation - megaepiphyses - ulnar pseudoepiphyses - hypoplastic fibulae - brachymesophalangia: a new syndrome.

G Nishimura1, K Kozlowski, K Tachibana, K Kameshita, S Ohba.   

Abstract

The distinctive radiographic features - megaepiphyses, hypoplastic fibulae, ulnar pseudoepiphyses and brachymesophalangy - in a 14-year-old Japanese boy with mental retardation are reported.

Entities:  

Mesh：

Year:  1996        PMID： 8753671     DOI： 10.1007/bf01372241

Source DB:  PubMed          Journal:  Pediatr Radiol        ISSN： 0301-0449


  6 in total

1.  [Special form of epimetaphyseal osteochondrodysplasia].

Authors:  E Rupprecht; K Kozlowski; G K Hinkel
Journal:  Helv Paediatr Acta       Date:  1971-08

2.  Spondylo-megaepiphyseal-metaphyseal dysplasia: a new bone dysplasia resembling cleidocranial dysplasia.

Authors:  F N Silverman; M A Reiley
Journal:  Radiology       Date:  1985-08       Impact factor: 11.105

3.  Unclassified type of spondylo-epiphyseal dysplasia with macroepiphyses (report of a case).

Authors:  K Kozlowski
Journal:  Australas Radiol       Date:  1972-03

Review 4.  Bone dysplasia, midface hypoplasia, and deafness: three new patients and review of the literature.

Authors:  H Kääriäinen; M Barrow; R Hennekam
Journal:  Am J Med Genet       Date:  1993-04-15

5.  Oto-spondylo-megaepiphyseal dysplasia (OSMED).

Authors:  A Giedion; M Brandner; J Lecannellier; U Muhar; A Prader; J Sulzer; E Zweymüller
Journal:  Helv Paediatr Acta       Date:  1982-09

6.  Macroepiphyseal dysplasia with symptomatic osteoporosis, wrinkled skin, and aged appearance: a presumed autosomal recessive condition.

Authors:  W H McAlister; J D Coe; M P Whyte
Journal:  Skeletal Radiol       Date:  1986       Impact factor: 2.199
  6 in total

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