Literature DB >> 7215711

Congenital myopathy with oculo-facial and skeletal abnormalities.

S D Ferguson, I D Young, R Teoh.   

Abstract

A case report is presented of a boy with congenital myopathy associated with oculo-facial and skeletal abnormalities. The relationship of this case to patients with the Schwartz-Jampel and Marden-Walker syndromes is discussed.

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Year:  1981        PMID： 7215711     DOI： 10.1111/j.1469-8749.1981.tb02447.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN： 0012-1622            Impact factor:   5.449


  3 in total

1.  Genetic heterogeneity in Schwartz-Jampel syndrome: two families with neonatal Schwartz-Jampel syndrome do not map to human chromosome 1p34-p36.1.

Authors:  K A Brown; L I al-Gazali; L M Moynihan; N J Lench; A F Markham; R F Mueller
Journal:  J Med Genet       Date:  1997-08       Impact factor: 6.318

2.  Neonatal Schwartz-Jampel syndrome: a common autosomal recessive syndrome in the United Arab Emirates.

Authors:  L I Al-Gazali; M Varghese; E Varady; J Al Talabani; J Scorer; D Bakalinova
Journal:  J Med Genet       Date:  1996-03       Impact factor: 6.318

3.  A 26-month-old child with Marden-Walker syndrome and pyloric stenosis.

Authors:  D Gossage; J M Perrin; M G Butler
Journal:  Am J Med Genet       Date:  1987-04
  3 in total

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