Publication

CARTILAGE HAIR HYPOPLASIA, METAPHYSEAL CHONDRODYSPLASIA TYPE MCKUSICK - DESCRIPTION OF 7 PATIENTS AND REVIEW OF THE LITERATURE

VANDERBURGT, N. V., HARALDSSON, A., OOSTERWIJK, JC., VANESSEN, AJ., WEEMAES, C. & HAMEL, B., 1-Dec-1991, In : American Journal of Medical Genetics. 41, 3, p. 371-380 10 p.

Research output: Contribution to journalArticleAcademicpeer-review

  • [No Value] VANDERBURGT
  • A HARALDSSON
  • JC OOSTERWIJK
  • AJ VANESSEN
  • C WEEMAES
  • B HAMEL

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.

Original languageEnglish
Pages (from-to)371-380
Number of pages10
JournalAmerican Journal of Medical Genetics
Volume41
Issue number3
Publication statusPublished - 1-Dec-1991

    Keywords

  • SHORT-LIMB DWARFISM, CELLULAR IMMUNODEFICIENCY, AUTOSOMAL RECESSIVE INHERITANCE, T-CELL, MEDIATED IMMUNODEFICIENCY, LYMPHOCYTE DYSFUNCTION, CHILD, IMMUNITY, ANEMIA, DEFECT, AMISH

ID: 6300858