An unknown spondyloepimetaphyseal dysplasia with a positive sweat chloride test, sparse hair and mild facial dysmorphism.
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.
Leonard
N J
NJ
Institute of Medical Genetics, University Hospital of Wales, Cardiff.
Hughes
H E
HE
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
D002712:Chlorides