Ultrasonographic measurement of the nuchal translucency (NT, in the second trimester referred to as nuchal skin fold) in the fi rst trimester of pregnancy has become an established method for identifying fetuses at risk for aneuploidy.1 In the presence of a normal karyotype in fetuses with enlarged NT (>p95), there is still an increased risk of a variety of congenital abnormalities, such as car...

Detailed clinical, ophthalmological, and molecular studies were performed on a multigeneration family in which there were many subjects with type 1 neurofibromatosis, a common autosomal dominant disorder. Affected family members displayed a wide range of clinical findings including, in two subjects, features seen in Noonan syndrome (triangular facies, downward slanting palpebral fissures, micro...

BACKGROUND/AIM Neurofibromatosis 1-Noonan syndrome (NFNS) presents combined characteristics of both autosomal dominant disorders: NF1 and Noonan syndrome (NS). The genes causing NF1 and NS are located on different chromosomes, making it uncertain whether NFNS is a separate entity as previously suggested, or rather a clinical variation. PATIENTS AND METHODS We present a four-membered Greek fam...

Central giant cell granuloma is a benign, aggressive neoplasm composed of multinucleated giant cells that almost exclusively occurs in the jaws though extra- gnathic incidence is rare. Multifocal CGCGs of the jaws are very rare and suggestive of systemic diseases such as hyperparathyroidism, an inherited syndrome such as Noonan- like multiple giant cell lesion syndrome or other disorders.Very f...