Noonan-like/multiple giant cell lesion syndrome.
A patient with the Noonan-like/multiple giant cell lesion syndrome is reported and the findings in 14 cases are reviewed. Impressive manifestations include short stature, low normal intelligence or developmental delay, ocular hypertelorism, prominent posteriorly angulated ears, giant cell lesions of bones, joints, and/or soft tissues, pectus excavatum, and pulmonic stenosis. It has been difficult to delineate the syndrome because problems in identifying the condition have resulted from incomplete or truncate ascertainment by various medical specialists.
Cohen
M M
MM
Department of Oral Biology, Faculty of Dentistry, Dalhousie University, Halifax, Nova Scotia, Canada.
Gorlin
R J
RJ
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000293:Adolescent; D001847:Bone Diseases / Q000235:genetics / Q000473:pathology; D003240:Connective Tissue Diseases / Q000235:genetics / Q000473:pathology; D005260:Female; D005799:Genes, Dominant / Q000235:genetics; D015726:Giant Cells / Q000473:pathology*; D006101:Granuloma, Giant Cell / Q000235:genetics / Q000473:pathology; D006801:Humans; D008297:Male; D009634:Noonan Syndrome / Q000235:genetics / Q000473:pathology; D013577:Syndrome; D009626:Terminology as Topic