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

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

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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.

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

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