Literature DB >> 7826119

Toledo type brachyolmia.

L Grain1, O Duke, G Thompson, E G Davies.   

Abstract

Brachyolmia is a form of spondylodysplasia that has not to the authors' knowledge been described in the UK. It may be a cause of short stature that is currently unrecognised. A case of an 11 year old boy with clinical, radiographic, and eye findings consistent with Toledo type brachyolmia is reported.

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Year:  1994        PMID： 7826119      PMCID： PMC1030064          DOI： 10.1136/adc.71.5.448

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  4 in total

1.  Excretion of chondroitin sulfate C with low sulfate content by patients with generalized platyspondyly (brachyolmia).

Authors:  P A Mour ao; S P Toledo; H B Nader; C P Dietrich
Journal:  Biochem Med       Date:  1973-06

2.  Recessively inherited, late onset spondylar dysplasia and peripheral corneal opacity with anomalies in urinary mucopolysaccharides: a possible error of chondroitin-6-sulfate synthesis.

Authors:  S P Toledo; P A Mourão; C Lamego; C A Alves; C P Dietrich; L M Assis; E Mattar
Journal:  Am J Med Genet       Date:  1978

Review 3.  Brachyolmia: radiographic and genetic evidence of heterogeneity.

Authors:  M Shohat; R Lachman; H E Gruber; D L Rimoin
Journal:  Am J Med Genet       Date:  1989-06

4.  Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion.

Authors:  A C Sewell; C Wern; B F Pontz
Journal:  Clin Genet       Date:  1991-10       Impact factor: 4.438
  4 in total
  1 in total

1.  Toledo type brachyolmia.

Authors:  S Toledo
Journal:  Arch Dis Child       Date:  1996-02       Impact factor: 3.791
  1 in total

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