Cartilage hair hypoplasia: Heterogeneity in clinical features and management among siblings
نویسندگان
چکیده
منابع مشابه
Clinical Features and Management of Cartilage-Hair Hypoplasia: A Narrative Review
Context: Cartilage-hair hypoplasia is a rare hereditary cause of short stature. The aim of this study was to familiarize physicians with this rare but important disease. Evidence Acquisition: This article is a narrative review of the scientific literature to inform about clinical features and management of Cartilage-hair hypoplasia. A systematic search identified 127 papers include original and...
متن کاملCartilage 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...
متن کاملCartilage-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...
متن کاملIncreased 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...
متن کاملCartilage 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...
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ژورنال
عنوان ژورنال: LymphoSign Journal
سال: 2018
ISSN: 2292-5937,2292-5945
DOI: 10.14785/lymphosign-2017-0014