title: Arthrogryposis, perthes disease, and upward gaze palsy: a novel autosomal recessive syndromic form of arthrogryposis.
abstract: 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 academic problems but had a history of birth hypoxia. Pedigree is consistent with an autosomal recessive mode of inheritance. Lack of previous reports suggests this represents a novel syndromic form of arthrogryposis.
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia. falkuraya@kfshrc.edu.sa
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000293:Adolescent; D001176:Arthrogryposis / Q000235:genetics* / Q000473:pathology*; D002648:Child; D005260:Female; D006801:Humans; D007873:Legg-Calve-Perthes Disease / Q000235:genetics* / Q000473:pathology*; D015835:Ocular Motility Disorders / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D013577:Syndrome