title: Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia.
abstract: 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.
authors.affiliation: Division of Immunology, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.
authors.forename: Gülten
authors.initials: G
authors.lastname: Türkkani-Asal
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
authors.forename: Tuba
authors.initials: T
authors.lastname: Turul-Ozgür
authors.forename: Martin
authors.initials: M
authors.lastname: Zenker
authors.forename: Christian
authors.initials: C
authors.lastname: Thiel
authors.forename: Anita
authors.initials: A
authors.lastname: Rauch
authors.forename: Sule
authors.initials: S
authors.lastname: Unal
authors.forename: Aytemiz
authors.initials: A
authors.lastname: Gürgey
authors.forename: Ilhan
authors.initials: I
authors.lastname: Tezcan
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D002356:Cartilage / Q000002:abnormalities / Q000000981:diagnostic imaging; D003937:Diagnosis, Differential; D006197:Hair / Q000002:abnormalities*; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000175:diagnosis* / Q000235:genetics; D007223:Infant; D008297:Male; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D010033:Otitis Media / Q000209:etiology; D010641:Phenotype; D011859:Radiography; D012008:Recurrence