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.
|Number of pages||10|
|Journal||American Journal of Medical Genetics|
|Publication status||Published - 1-Dec-1991|
- SHORT-LIMB DWARFISM
- CELLULAR IMMUNODEFICIENCY
- AUTOSOMAL RECESSIVE INHERITANCE
- MEDIATED IMMUNODEFICIENCY
- LYMPHOCYTE DYSFUNCTION