Premium
Noonan syndrome associated with central giant cell granuloma
Author(s) -
Uçar Birsen,
Ökten Aysenur,
Mocan Hilal,
Erçin Cengiz
Publication year - 1998
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1998.tb02756.x
Subject(s) - hypertelorism , noonan syndrome , medicine , central giant cell granuloma , enophthalmos , short stature , giant cell , anatomy , magnetic resonance imaging , radiology , pathology , surgery , diplopia
We report a case of Noonan syndrome associated with central giant cell granuloma. The patient was a 101/2‐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.