Noonan syndrome associated with central giant cell granuloma

Ucar B., Okten A., Mocan H., Ercin C.

CLINICAL GENETICS, cilt.53, sa.5, ss.411-414, 1998 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 53 Sayı: 5
  • Basım Tarihi: 1998
  • Doi Numarası: 10.1111/j.1399-0004.1998.tb02756.x
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.411-414
  • Anahtar Kelimeler: central giant cell granuloma, child, Noonan-like multiple giant cell lesion syndrome, Noonan syndrome, proptosis, PHENOTYPE, NEUROFIBROMATOSIS, CHERUBISM, LESIONS
  • Eskişehir Osmangazi Üniversitesi Adresli: Evet

Özet

We report a case of Noonan syndrome associated with central giant cell granuloma. The patient was a 10 1/2-year-old boy with the chief complaint of proptosis of the right eye. He also had various malformations such as short stature. webbed neck, pectus excavatum, cubitus valgus, pulmonary valve stenosis and patent foramen ovale, a characteristic face appearance and cryptorchidism and so on. Chromosome analysis showed a 46,XY karyotype. A computed tomographic scan and magnetic resonance imaging showed a mass originated from the lateral wall of the right maxillary sinus. The patient underwent Caldwell-Luc operation. Histological examination of the mass showed the characteristics of central giant cell granuloma. This case report describes a patient with the features of the recently described Noonan-like/multiple giant cell lesion syndrome.