The Turkish Journal of Pediatrics 2009 , Vol 51 , Num 5
Mild Clinical Phenotype and Subtle Radiographic Findings in an Infant with Cartilage-Hair Hypoplasia
Divisions of 1Immunology, 2Clinical Genetics, and 4Hematology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey, and 3Institute of Human Genetics, University Hospital Erlangen, Friedrich-Alexander University, Erlangen-Nuremberg, Germany 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 immunodeficiency. However, there is a significant overlap of clinical findings among the other IODs such as Schimke’s IOD. Here, we present a case of CHH with mild skeletal changes and immunological findings associated with recurrent otitis media, neutropenia, and lymphopenia. With this report, we once more emphasize the difficulty in assessing young individuals with CHH presenting with mild ectodermal findings and subtle radiographic changes. Keywords : cartilage-hair hypoplasia, immunodeficiency, RMRP gene.
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