Arthrogryposis, Perthes Disease, and Upward Gaze Palsy: A Novel Autosomal Recessive Syndromic Form of Arthrogryposis

作者：Alkuraya Fowzan S^*

来源：American Journal of Medical Genetics, Part A, 2011, 155A(2): 297-300.

DOI：10.1002/ajmg.a.33794

• atopy
• arthrogryposis
• exostosis
• pericardial effusion
• pyloric stenosis

In this article, the unusual combination of arthrogryposis, upward gaze palsy, and Perthes disease in two sisters and their cousin who are all part of an extended consanguineous Saudi family is reported. All patients had difficult to control bronchial asthma and subtle facial dysmorphism. Two of the three had pyloric stenosis, two were intellectually normal, and one had academicproblems but had a history of birth hypoxia. Pedigree is consistent with an autosomal recessivemodeof inheritance. Lack of previous reports suggests this represents a novel syndromic form of arthrogryposis.

• 出版日期2011-2