title: Cartilage-hair hypoplasia--clinical manifestations in 108 Finnish patients.
abstract: Cartilage-hair hypoplasia is an autosomal recessive metaphyseal chondrodysplasia with short-limbed short stature, hypoplastic hair, and defective immunity and erythrogenesis. We have analysed the clinical outcome of 108 Finnish patients. Birth length was below -2.0 SD in 70% of the patients; the adult heights ranged from -11.4 SD to -5.2 SD. The sitting height percentage was increased in all but 4 patients. Six patients had normal hair. Increased ligamentous laxity was present in 95%, limited extension of the elbows in 92%, increased lumbar lordosis in 85%, thoracal deformity in 68%, genu varum in 63% and scoliosis in 21% of the patients. Defective cellular immunity had been observed in 88% and increased susceptibility to infections in 56% of the patients. Six patients had died of primary infections. The incidence of malignancies was 6%. Childhood anaemia had occurred in 79% of the patients. It was usually mild, but severe in 14 patients. Hirschsprung disease had been observed in 8, anal stenosis in 1 and oesophageal atresia in 1 patient. The intrafamilial variation of the syndrome was considerable as studied in 16 sibships.
authors.affiliation: Department of Medical Genetics, University of Helsinki, Finland.
authors.forename: O
authors.initials: O
authors.lastname: Mäkitie
authors.forename: I
authors.initials: I
authors.lastname: Kaitila
mesh_terms: D001827:Body Height; D002423:Cause of Death; D005097:Exostoses, Multiple Hereditary / Q000208:ethnology / Q000503:physiopathology*; D005260:Female; D005387:Finland / Q000208:ethnology; D006128:Growth; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D010641:Phenotype