Gardner-Silengo-Wachtel sendromu

Gardner-Silengo-Wachtel sendromu (Genitopalatocardiac sendrom), otosomal resesif yolla aktarılan, ender görülen kalıtsal bir sendromdur. Bebekler ölü doğarlar ya da doğumdan sonraki günlerde kaybedilirler. Mikrognati, yarık dudak ve yarık damak yüz bölgesindeki bulgulardır.[1][2][3]

Ventriküler septal defekt, büyük damarlarda yer değiştirme (transpozisyon) gibi kardiyovasküler anomaliler vardır. Her iki böbreği tutan kistik hastalık görülür. Erkek çocuklarında gerçek hermafroditizm saptanır.[1][2][3]

Kaynakça

Gardner LI, Assemany SR, Neu RL. 46,XY female: anti-androgenic effect of oral contraceptive? Lancet, 296: 667-668, 1970
Greenberg F, Gresik MV, Carpenter RJ, et al. The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect. American Journal of Medical Genetics, 26: 59-64, 1987
Golabi M, James AW, Desai N, et al. Gardner-Silengo-Wachtel or genito-palato-cadiac (sic) syndrome with associated autosomal aneuploidy. American Journal of Medical Genetics, 149A: 693-697, 2009

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[:0-1] Gardner LI, Assemany SR, Neu RL. 46,XY female: anti-androgenic effect of oral contraceptive? Lancet, 296: 667-668, 1970

[:1-2] Greenberg F, Gresik MV, Carpenter RJ, et al. The Gardner-Silengo-Wachtel or genito-palato-cardiac syndrome: male pseudohermaphroditism with micrognathia, cleft palate, and conotruncal cardiac defect. American Journal of Medical Genetics, 26: 59-64, 1987

[:2-3] Golabi M, James AW, Desai N, et al. Gardner-Silengo-Wachtel or genito-palato-cadiac (sic) syndrome with associated autosomal aneuploidy. American Journal of Medical Genetics, 149A: 693-697, 2009