Cartilage-hair hypoplasia — clinical manifestations in 108 Finnish patients
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.
Key wordsCartilage-hair hypoplasia Metaphyseal chondrodysplasia Clinical manifestations Short stature Immunodeficiency
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- 1.Boothby CB, Bower BD (1973) Cartilage hair hypoplasia. Arch Dis Child 48:919–921Google Scholar
- 3.Dallman PR (1991) In: Dallman PR (ed) Rudolph's pediatrics. Appleton and Lange, Norwalk, p 1142Google Scholar
- 5.Fauchier C, Régy JM, Combe P (1969) Nanisme diastrophique familial avec maladie de Hirschsprung. Ann Pédiatr (Paris) 16:496–502Google Scholar
- 6.Francomano CA, Trojak JE, McKusick VA (1983) Cartilagehair hypoplasia in the Amish: Increased susceptibility to malignancy (abstract). Am J Hum Genet 35:89AGoogle Scholar
- 12.Kaitila I, Perheentupa J (1980) Cartilage-hair hypoplasia. In: Eriksson AW, Forsius H, Nevanlinna HR, Workman PL, Norio RK (eds) Population structure and genetic disorders. Academic Press, London, pp 588–591Google Scholar
- 13.Le Merrer M, Briard ML, Chauvet ML, Maroteaux P (1991) Autosomal recessive metaphyseal chondrodysplasia and Hirschsprung's disease. Ann Pédiatr (Paris) 38:27–30Google Scholar
- 16.Mäkitie O (1992) Cartilage-hair hypoplasia in Finland-epidemiologic and genetic aspects in 107 patients. J Med Genet (in press)Google Scholar
- 18.Mäkitie O, Rajantie J, Kaitila I (1992) Anemia and macrocytosis, unrecognized features of cartilage-hair hypoplasia. Acta Paediatr (in press)Google Scholar
- 19.Marttinen E (1983) The growth of hand bones in relation to some body dimensions in normal children and in certain forms of short stature. Thesis, University of HelsinkiGoogle Scholar
- 21.McKusick VA (1974) Homocystinuria. In: McKusick VA (ed) Heritable disorders of connective tissue. CV Mosby Company, St Louis, pp 224–281Google Scholar
- 23.Mitus A, Holloway A, Evans AE, Enders JF (1962) Attenuated measles vaccine in children with acute leukemia. Am J Dis Child 103:243–248Google Scholar
- 31.Roberts MA, Arnold RM (1984) Hodgkin's lymphoma in a child with cartilage-hair hypoplasia (case report). Milit Med 149:280–281Google Scholar