Noonan syndrome with multiple giant cell lesions, case report

Noonan syndrome with multiple giant cell lesions (NS/MGCLS) is a term used to describe a subgroup of people with Noonan syndrome, a rare condition with phenotypic overlap with NS. Once thought to be a specific and separate entity, it is now suggested to be a variant of the NS spectrum. Here we report a 22-year-old patient misdiagnosed as having Rubinstein-Taybi syndrome (microcephaly, congenital heart disease, ventricular septal defect, cryptorchidism, pterygium coli, inguinal hernia, and short stature and neck).

Source: Oral Surgery, Oral Medicine, Oral Pathology, Oral Radiology, and Endodontics - December 15, 2019 Category: ENT & OMF Authors: MACARENA SHERMAN ALLENDORF, VICTOR RIVAS OSSES, CAMILA DELGADO SALAS Source Type: research