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Intrauterine diagnosis and evolution of a cardiomyopathy in a fetus with Noonan's syndrome
Author(s) -
Sonesson SvenErik,
Fouron JeanClaude,
Lessard Ma
Publication year - 1992
Publication title -
acta pædiatrica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.772
H-Index - 115
eISSN - 1651-2227
pISSN - 0803-5253
DOI - 10.1111/j.1651-2227.1992.tb12247.x
Subject(s) - noonan syndrome , medicine , cystic hygroma , fetus , karyotype , abnormality , prenatal diagnosis , cardiomyopathy , hypertrophic cardiomyopathy , cardiology , fetal echocardiography , turner syndrome , in utero , pregnancy , pathology , chromosome , heart failure , genetics , psychiatry , biology , gene
We report on a newborn infant with a typical form of Noonan's syndrome. Because of the presence of a fetal cystic hygroma and normal karyotype the diagnosis was suspected before birth. A progressive hypertrophic cardiomyopathy was also found following fetal echocardiographic scanning. We conclude that in addition to cystic hygroma with normal karyotype, the presence of functional or morphological evidence of myocardial abnormality should be included also as prenatal features of Noonan's syndrome.