Journal of Ayub Medical College, Abbottabad : JAMC
McKusik Kaufman syndrome.
Vetëm përdoruesit e regjistruar mund të përkthejnë artikuj
Identifikohuni Regjistrohu
Lidhja ruhet në kujtesën e fragmenteve
Fjalë kyçe
Abstrakt
A 12-years-old male child presented with polydactyly and syndactyly of hands, hypospadias, AND undescended testes. He was a known case of Tetrology of Fallot. One important differential in our case was Bardet-Biedl syndrome, but it was ruled out due to lack of evidence of central obesity, mental retardation and retinitis pigmentosa. At this time, there is no molecular testing available to distinguish these two syndromes.