Literature DB >> 3321990

Neonatal manifestations of Schwartz-Jampel syndrome.

S A Farrell1, R G Davidson, P Thorp.   

Abstract

Schwartz-Jampel syndrome generally presents in childhood with short stature, limited joint mobility, masklike facies with blepharophimosis, myotonia, and often muscle hypertrophy. Few cases with neonatal manifestations have been described. A newborn with severe manifestations is reported and the literature is reviewed.

Entities:  

Mesh：

Year:  1987        PMID： 3321990     DOI： 10.1002/ajmg.1320270409

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN： 0148-7299


  4 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.  Schwartz-Jampel syndrome (chondrodystrophic myotonia).

Authors:  D Viljoen; P Beighton
Journal:  J Med Genet       Date:  1992-01       Impact factor: 6.318

3.  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

4.  Clinico-pathogenetic findings and management of chondrodystrophic myotonia (Schwartz-Jampel syndrome): a case report.

Authors:  Nicola C Ho; Stacey Sandusky; Victor Madike; Clair A Francomano; Marinos C Dalakas
Journal:  BMC Neurol       Date:  2003-07-02       Impact factor: 2.474
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.