Mild clinical phenotype and subtle radiographic findings in an infant with cartilage-hair hypoplasia

Turkkani-Asal G., ALANAY Y., Turul-Ozgur T., Zenker M., Thiel C., Rauch A., ...Daha Fazla

TURKISH JOURNAL OF PEDIATRICS, cilt.51, sa.5, ss.493-496, 2009 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 51 Sayı: 5
  • Basım Tarihi: 2009
  • Dergi Adı: TURKISH JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.493-496
  • Anahtar Kelimeler: cartilage-hair hypoplasia, immunodeficiency, RMRP gene, IMMUNO-OSSEOUS DYSPLASIA, RMRP, MUTATIONS, CHILDREN
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

Özet

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.