title: Cartilage hair hypoplasia, metaphyseal chondrodysplasia type McKusick: description of seven patients and review of the literature.
abstract: We describe 7 cases of cartilage hair hypoplasia (CHH) with emphasis on the clinical and immunological aspects. The literature on CHH is reviewed and symptoms in 63 non-Amish cases are summarized. In this autosomal recessive disorder the immunodeficiency, hair abnormalities, and severity of skeletal involvement show extremely variable expressivity, between and within families. Two of the 3 sib-pairs among our cases demonstrate the great difference in expression within one family. At adult age roentgenological abnormalities can be very mild, or even absent. An impairment in cell-mediated immunity is present in all of our cases and seems a consistent manifestation in CHH; however, sometimes it is very subtle and without clinical symptoms.
authors.affiliation: Department of Human Genetics, University Hospital Nijmegen, The Netherlands.
authors.forename: I
authors.initials: I
authors.lastname: van der Burgt
authors.forename: A
authors.initials: A
authors.lastname: Haraldsson
authors.forename: J C
authors.initials: JC
authors.lastname: Oosterwijk
authors.forename: A J
authors.initials: AJ
authors.lastname: van Essen
authors.forename: C
authors.initials: C
authors.lastname: Weemaes
authors.forename: B
authors.initials: B
authors.lastname: Hamel
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000235:genetics* / Q000276:immunology; D000328:Adult; D002648:Child; D004392:Dwarfism / Q000000981:diagnostic imaging / Q000235:genetics* / Q000276:immunology; D005097:Exostoses, Multiple Hereditary / Q000000981:diagnostic imaging / Q000235:genetics* / Q000276:immunology; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D011859:Radiography; D014429:Twins, Dizygotic / Q000235:genetics