Literature DB >> 10486082

Spondylo-epimetaphyseal dysplasia: a new X-linked variant with mental retardation.

T Bieganski1, B Dawydzik, K Kozlowski.   

Abstract

UNLABELLED: A new X-linked variant of spondylo-epimetaphyseal dysplasia with distinctive phenotype and severe mental retardation in three boys of one family is reported. The children were normal at birth. After several months of normal development progressive physical disability and slow mental deterioration were observed. Extensive biochemical tests were normal.
CONCLUSION: These patients represent a new form of X-linked spondylo-epimetaphyseal dysplasia.

Entities:  

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Year:  1999        PMID： 10486082     DOI： 10.1007/s004310051211

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN： 0340-6199            Impact factor:   3.183


  4 in total

1.  The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

Authors:  A K Gedeon; G E Tiller; M Le Merrer; S Heuertz; L Tranebjaerg; D Chitayat; S Robertson; I A Glass; R Savarirayan; W G Cole; D L Rimoin; B G Kousseff; H Ohashi; B Zabel; A Munnich; J Gecz; J C Mulley
Journal:  Am J Hum Genet       Date:  2001-05-08       Impact factor: 11.025

2.  Dyggve-Melchior-Clausen syndrome: clinical, genetic, and radiological study of 15 Egyptian patients from nine unrelated families.

Authors:  Mona S Aglan; Samia A Temtamy; Ekram Fateen; Adel M Ashour; Khamis Eldeeb; Gamal A Hosny
Journal:  J Child Orthop       Date:  2009-10-09       Impact factor: 1.548

3.  X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

Authors:  Noriko Miyake; Nicole I Wolf; Ferdy K Cayami; Joanna Crawford; Annette Bley; Dorothy Bulas; Alex Conant; Stephen J Bent; Karen W Gripp; Andreas Hahn; Sean Humphray; Shihoko Kimura-Ohba; Zoya Kingsbury; Bryan R Lajoie; Dennis Lal; Dimitra Micha; Amy Pizzino; Richard J Sinke; Deborah Sival; Irene Stolte-Dijkstra; Andrea Superti-Furga; Nicole Ulrick; Ryan J Taft; Tsutomu Ogata; Keiichi Ozono; Naomichi Matsumoto; Bernd A Neubauer; Cas Simons; Adeline Vanderver
Journal:  Neurogenetics       Date:  2017-08-26       Impact factor: 2.660

Review 4.  Emerging cellular themes in leukodystrophies.

Authors:  Joseph C Nowacki; Ashley M Fields; Meng Meng Fu
Journal:  Front Cell Dev Biol       Date:  2022-08-08
  4 in total

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