Literature DB >> 13680008

Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia.

Prachi Pragya Agarwal1, Ashok Srinivasan, Raju Sharma, Madhulika Kabra, Arun Kumar Gupta.   

Abstract

A rare case of spondylo-megaepiphyseal-metaphyseal dysplasia is reported in a 10-year-old boy. The features were metaphyseal dysplasia, markedly defective ossification of vertebral body centres and enlarged epiphyses. Although it shares some features with spondylo-metaphyseal dysplasia, oto-spondylo-megaepiphyseal dysplasia and cleidocranial dysplasia, the presence of several unusual radiological findings sets it apart.

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Year:  2003        PMID: 13680008     DOI: 10.1007/s00247-003-1033-3

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


  3 in total

1.  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

2.  [Achondrogenesis type I and II and hypochondrogenesis (author's transl)].

Authors:  M Bueno; F Toledo; J Toledo; T Villegas; S López; J Remírez; G García-Julián
Journal:  An Esp Pediatr       Date:  1980-10

3.  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
  3 in total
  2 in total

1.  The broad role of Nkx3.2 in the development of the zebrafish axial skeleton.

Authors:  Laura Waldmann; Jake Leyhr; Hanqing Zhang; Caroline Öhman-Mägi; Amin Allalou; Tatjana Haitina
Journal:  PLoS One       Date:  2021-08-19       Impact factor: 3.240

2.  Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia.

Authors:  Jan Hellemans; Marleen Simon; Annelies Dheedene; Yasemin Alanay; Ercan Mihci; Laila Rifai; Abdelaziz Sefiani; Yolande van Bever; Morteza Meradji; Andrea Superti-Furga; Geert Mortier
Journal:  Am J Hum Genet       Date:  2009-12       Impact factor: 11.025

  2 in total

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