Complex congenital heart disease, microcephaly, pheochromocytoma and neurofibromatosis type I in a girl born from consanguineous parents.

Abstract excerpt

The female proband, from Turkish extraction was the fifth liveborn child of a 24-years-old mother and a 25-years-old father. Her parents as well as her two older sisters and her two older brothers were phenotypically normal. Parents were first cousins. At birth a complex cardiac defect was diagnosed (tricuspid atresia, hypoplasia of the pulmonary artery, dextroposition of the aorta, ventricular septal defect and...

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