Short stature and metaphyeal dysplasia due to cartilage-hair hypoplasia.
نویسندگان
چکیده
منابع مشابه
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...
متن کاملClinical 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 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...
متن کاملNovel mutation in boy with cartilage-hair hypoplasia.
BACKGROUND Cartilage-hair hypoplasia (MIM 250250) is an autosomal recessive disease with diverse clinical manifestations. The clinical phenotypes include variable degrees of bone and hair dysplasia, deficient cellular and/or humoral immunity, and a predisposition to malignancy. METHODS We performed genetic studies of a patient with disproportionate short stature and brittle scalp hair. Geneti...
متن کاملMild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia.
Cartilage-hair hypoplasia (CHH) is one of the well-known immuno-osseous dysplasias (IOD), which are a combination of skeletal dysplasia and immunodeficiency. It is characterized by disproportionate short stature, fine sparse hair, ligamentous laxity, hematological abnormalities with anemia, a predisposition to malignant tumors, and recurrent infections usually due to cellular and/or humoral imm...
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ورودعنوان ژورنال:
- Journal of pediatric endocrinology & metabolism : JPEM
دوره 21 3 شماره
صفحات -
تاریخ انتشار 2008