title: Skeletal growth in cartilage-hair hypoplasia. A radiological study of 82 patients.
abstract: Cartilage-hair hypoplasia is a metaphyseal chondrodysplasia with short-limbed short stature. In childhood radiographs the metaphyseal regions of the tubular bones are widened, scalloped and irregularly sclerotic. We have analyzed radiological characteristics and skeletal growth in 149 radiographic surveys of 82 Finnish patients. All extremity long bones were affected and short for age. The growth failure was progressive. In the adults the median relative lengths were for the humerus -6.3 SD, radius -8.6 SD, ulna -6.7 SD, femur -9.7 SD, tibia -8.7 SD, and fibula -6.8 SD. the severity of the metaphyseal changes correlated with the degree of the growth failure. The skeletal age was markedly retarded in 14% of the patients. Caudal widening of the interpediculate distance in the lumbar spine was observed in 90% of the patients, but it tended to be less than normal. The sagittal diameter of the spinal canal was normal in the cervical region but decreased in the lumbar region. Mild scoliosis was observed in one-fourth of the patients, and its incidence increased with age. Lumbar lordosis was moderately increased. Thoracic deformity was observed in 82% of the patients. The relative interorbital distance was increased with the median of +2.2 SD in the adults.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Finland.
authors.forename: O
authors.initials: O
authors.lastname: Mäkitie
authors.forename: E
authors.initials: E
authors.lastname: Marttinen
authors.forename: I
authors.initials: I
authors.lastname: Kaitila
mesh_terms: D000328:Adult; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging*; D001842:Bone and Bones / Q000002:abnormalities / Q000000981:diagnostic imaging; D002648:Child; D002675:Child, Preschool; D004838:Epiphyses / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D005190:Family; D005260:Female; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D008297:Male; D011859:Radiography; D012886:Skull / Q000000981:diagnostic imaging; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging