cartilage hair hypoplasia: first report from iran

Cartilage Hair Hypoplasia: First report from Iran

  Cartilage hair hypoplasia (CHH), is a rare cause of metaphyseal chondrodysplasia and short stature. Other features included hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (Hirschsprung disease, celiac, …) and increased risk of cancer. The disease is an autosomal recessive disorder and previously has not been reported in Iran. We report a 9-year-old boy diagnosed as car...

Cartilage Hair Hypoplasia: First report from Iran

Cartilage hair hypoplasia (CHH), is a rare cause of metaphyseal chondrodysplasia and short stature. Other featuresincluded hair abnormality, immunodeficiency, anemia, gastrointestinal disorders (Hirschsprung disease,celiac, …) and increased risk of cancer. The disease is an autosomal recessive disorder and previously has notbeen reported in Iran. We report a 9-year-old boy diagnosed as cartilag...

Cartilage-hair hypoplasia (CHH)

Note: CHH was first described in the Amish, an isolated religious group in the USA by Victor McKusick in 1965. It is a multi-systemic disorder characterized by short stature, blond fine sparse hair, but this may be quite variable, and defective cellular immunity predominantly affecting T-cell mediated responses. Patients may have severe combined immunodeficiency, requiring bone marrow transplan...

Increased mortality in cartilage-hair hypoplasia.

BACKGROUND Cartilage-hair hypoplasia (CHH) is an autosomal recessive chondrodysplasia with severe growth failure and impaired immunity. Impaired immunity may result in increased mortality. AIMS To follow a cohort of 120 CHH patients for mortality from 1971 to 1995. METHODS The overall and cause specific disease mortality rates in patients with CHH, and the disease mortality rate in 194 pare...

Cartilage hair hypoplasia: characteristics and orthopaedic manifestations

PURPOSE Cartilage hair hypoplasia (CHH) is a rare metaphyseal chondrodysplasia characterized by short stature and short limbs, found primarily in Amish and Finnish populations. Cartilage hair hypoplasia is caused by mutations in the RMRP gene located on chromosome 9p13.3. The disorder has several characteristic orthopaedic manifestations, including joint laxity, limited elbow extension, ankle v...

Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia.