title: [Noonan syndrome in the differential diagnosis of Turner syndrome].
abstract: In children with growth retardation and the typical face, particularly with valvar pulmonary stenosis, the Noonan syndrome is the be suspected. In early infancy, these patients show very severe developmental retardation and muscular hypotony. Mental retardation is frequent but not compulsory. The most important diagnostic tool is the chromosomal analysis. In our patient, the syndrome was diagnosed becaused of the typical appearance and the angiocardiographic findings in connection with a normal chromosomal sequence.
mesh_terms: D002648:Child; D003937:Diagnosis, Differential; D005152:Facial Muscles; D005260:Female; D006130:Growth Disorders / Q000209:etiology; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000209:etiology; D007621:Karyotyping; D009123:Muscle Hypotonia / Q000209:etiology; D009634:Noonan Syndrome / Q000175:diagnosis*; D011666:Pulmonary Valve Stenosis / Q000209:etiology; D014424:Turner Syndrome / Q000175:diagnosis*
vernacular_title: Noonan-Syndrom in Differetialdiagnose zum Turner-Syndrom.