title: An unknown spondyloepimetaphyseal dysplasia with a positive sweat chloride test, sparse hair and mild facial dysmorphism.
abstract: We report the case of a 5-year-old Caucasian female with an undiagnosed spondyloepimetaphyseal dysplasia, mild facial dysmorphism, sparse hair, mild developmental delay and a positive sweat chloride test in the absence of cystic fibrosis.
authors.affiliation: Institute of Medical Genetics, University Hospital of Wales, Cardiff.
authors.forename: N J
authors.initials: NJ
authors.lastname: Leonard
authors.forename: H E
authors.initials: HE
authors.lastname: Hughes
mesh_terms: D002675:Child, Preschool; D002712:Chlorides / Q000032:analysis*; D005147:Facial Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging; D005260:Female; D006201:Hair Diseases / Q000150:complications*; D006801:Humans; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging*; D011859:Radiography; D012886:Skull / Q000002:abnormalities* / Q000000981:diagnostic imaging; D013542:Sweat / Q000737:chemistry*; D013577:Syndrome
chemical_list: D002712:Chlorides