Complex congenital heart disease, microcephaly, pheochromocytoma and neurofibromatosis type I in a girl born from consanguineous parents.
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 auricular septal defect) for which she was operated on in 1976, 1983 and 1984. When she was 20 years old, latero aortic pheochromocytoma was diagnosed. At physical examination she had microcephaly (-3DS), mild dysmorphia: long pyramidal nose, short philtrum, short fingers and toes and scoliosis and 6 "café-au-lait" macules suggesting neurofibromatosis, type I. Complex congenital heart defect, microcephaly and pheochromocytoma in a patient with neurofibromatosis type I born from consanguineous parents might be a new association.
Stoll
C
C
Institut de Puériculture, Centre Hospitalo-Universitaire, Strasbourg.
Alembik
Y
Y
Dott
B
B
D000015:Abnormalities, Multiple / Q000235:genetics; D000310:Adrenal Gland Neoplasms / Q000235:genetics*; D000328:Adult; D003241:Consanguinity; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008831:Microcephaly / Q000235:genetics*; D009456:Neurofibromatosis 1 / Q000235:genetics*; D010641:Phenotype; D010673:Pheochromocytoma / Q000235:genetics*