نتایج جستجو برای: cartilage hair hypoplasia

تعداد نتایج: 77284  

  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...

Journal: :medical journal of islamic republic of iran 0
kobra shiasi arani research center for biochemistry and nutrition in metabolic disorders, kashan university of medical sciences, kashan, iran.سازمان اصلی تایید شده: دانشگاه علوم پزشکی کاشان (kashan university of medical sciences)سازمان های دیگر: research center for biochemistry and nutrition in metabolic disorders

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 carti...

2013
Kobra Shiasi Arani

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...

Journal: :Mayo Clinic Proceedings 2007

Journal: :Journal of medical genetics 1990
A Verloes G E Pierard M Le Merrer P Maroteaux

Among children with recessive metaphyseal dysplasia involving the knees and extremities, two types can be distinguished. In true cartilage-hair hypoplasia, as described by McKusick, many patients show clinical hair involvement and variable immunodeficiency. We present a series of six patients with the same radiological changes, but without apparent hypotrichosis. We suggest that they should be ...

2015
Kobra Shiasi Arani Victor McKusick

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...

Journal: :Atlas of Genetics and Cytogenetics in Oncology and Haematology 2011

2011
D Moshous I Meyts S Fraitag C Janssen M Debré F Suarez J Toelen K De Boeck T Roskams A Deschildre C Picard C Bodemer C Wouters A Fischer

Background Cartilage-hair hypoplasia (CHH) is a rare autosomal recessive disorder characterized by short-limbed skeletal dysplasia. Some patients also develop defects in cellmediated immunity and antibody production. Granulomatous inflammation has been described in patients with various forms of primary immunodeficiencies but, to date, has not been reported in patients with Cartilage-hair hypop...

2011
Pia Hermanns Brendan Lee

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...

Journal: :Pediatric Research 1992

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