Publication: Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia
Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia
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Türkkani-Asal, G., Alanay, Y., Turul-Özgür, T., Zenker, M., Thiel, C., Rauch, A., Ünal, Ş., Gürgey, A., & Tezcan, I. (2009). Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. Turkish Journal of Pediatrics, 51, 493–496.
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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
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- Türkkani-Asal, G
- Alanay, Y
- Turul-Özgür, T
- Zenker, M
- Thiel, C
- Rauch, A
- Ünal, Ş
- Gürgey, A
- Tezcan, I
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Türkkani-Asal, G., Alanay, Y., Turul-Özgür, T., Zenker, M., Thiel, C., Rauch, A., Ünal, Ş., Gürgey, A., & Tezcan, I. (2009). Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia. Turkish Journal of Pediatrics, 51, 493–496.
