Cardiovascular malformations in patients with a Turner's phenotype and a normal chromosomal karyotype (Noonan's syndrome) have been reported in several recent publications (Noonan and Ehmke, I963; Chaves-Carballo and Hayles, I966; Celermajer, Bowdler, and Cohen, I968; Noonan, I968). Congenital heart disease is present in 48 per cent (Smith, I970) of the patients, the most common abnormality bei...

BACKGROUND LEOPARD syndrome (LS) belongs to the family of neuro-cardio-facio-cutaneous syndromes, which include Neurofibromatosis-1 (NF1), Noonan syndrome, Costello Syndrome, cardio-facio-cutaneous syndrome, Noonan-like syndrome with loose anagen hair and Legius syndrome. These conditions are caused by mutations in genes encoding proteins involved in the RAS-MAPK cellular pathway. Clinical hete...

A family with Noonan syndrome is described. The expressivity of the clinical feature is identical in all the cases observed. The importance of interdisciplinary and prospective medical care is emphasized.

Noonan syndrome is an autosomal dominant disorder characterized by short stature, typical craniofacial features, and congenital heart defects. The underlying genetic defects were not clear until 2001. This report is the first to describe a molecular analysis and associated clinical features of a Turkish mother and son, who were clinically diagnosed as Noonan syndrome when the boy was referred t...

Noonan-like syndrome with loose anagen hair (NS/LAH; OMIM #607721) has been recently related to the invariant c.4A > G missense change in SHOC2. It is characterized by features reminiscent of Noonan syndrome. Ectodermal involvement, short stature associated to growth hormone (GH) deficiency (GHD), and cognitive deficits are common features. We compare in two patients with molecularly confirmed ...

Shp2 is a cytoplasmic protein-tyrosine phosphatase that is essential for normal development. Activating and inactivating mutations have been identified in humans to cause the related Noonan and LEOPARD syndromes, respectively. The cell biological cause of these syndromes remains to be determined. We have used the zebrafish to assess the role of Shp2 in early development. Here, we report that mo...

SHP2 is an allosteric phosphatase essential for growth factor-mediated Ras activation. Germ-line mutations in SHP2 cause clinically similar LEOPARD and Noonan syndromes, two of several autosomal-dominant conditions characterized by gain-of-function mutations in the Ras pathway. Interestingly, Noonan syndrome SHP2 mutants are constitutively active, whereas LEOPARD syndrome SHP2 mutants exhibit r...

introduction: noonan syndrome (ns) is a heterogeneous genetic disease that affects many parts of the body. it was named after dr. jacqueline anne noonan, a paediatric cardiologist.case report: we report audiological tests and auditory brainstem response (abr) findings in a 5-year old malay boy with ns. despite showing the marked signs of ns, the child could only produce a few meaningful words. ...

Cranio-dento-facial findings in a case of Noonan syndrome in a 13-year, 3-month-old male are reported. Oral examination of the patient revealed a narrow, high arched palate, malocclusion and congenitally missing teeth. Even though cephalometric measurements showed an increased vertical facial pattern (GoGn/SN = 38.46 degrees ), a severe deep bite (9 mm) was evident. Noonan syndrome is character...