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.
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McKusik Kaufman syndrome.
J Ayub Med Coll Abbottabad
February 2014
Department of Paediatrics, Foundation University Medical College, Fauji Foundation Hospital, Rawalpindi, Pakistan.
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.
View Article and Find Full Text PDFMcKusik-Kaufman syndrome: prenatal diagnosis, genetics and follow up.
Prenat Diagn
November 2002
Obstetrical Unit, Croix-Rousse Hospital, 93 Grande rue de la Croix-Rousse, 69004 Lyon, France.
McKusick-Kaufman syndrome (MKKS) is a rare autosomal recessive genetic disease with classical hexadactyly and hydrocolpos in females and sometimes cardiac abnormality. We report such a case diagnosed just before birth with a favourable outcome. From this case we describe and discuss all the prenatal sonographic signs which are not always present.
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