Syndrome of myxomas, spotty skin pigmentation, and endocrine overactivity (Carney complex).
A male patient is described with melanocytic schwannoma, atrial myxoma and spotty pigmentation in the face due to Carney complex. Remarkable findings are fertility problems with bilateral macroorchidism and oligoasthenospermia.
Legius
E
E
Centre for Human Genetics, University Hospital Gasthuisberg, Leuven, Belgium.
Daenen
W
W
Vandenbergh
V
V
Verbeeck
G
G
Bex
M
M
Fryns
J P
JP
D000328:Adult; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D006325:Heart Atria; D006338:Heart Neoplasms / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis / Q000235:genetics; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000175:diagnosis / Q000235:genetics*; D009232:Myxoma / Q000175:diagnosis / Q000235:genetics*; D009442:Neurilemmoma / Q000175:diagnosis / Q000235:genetics; D010524:Peripheral Nervous System Neoplasms / Q000175:diagnosis / Q000235:genetics; D010859:Pigmentation Disorders / Q000175:diagnosis / Q000235:genetics*; D013126:Spinal Nerve Roots; D013577:Syndrome