[Hydrometrocolpos, polydactylia and congenital heart defect (the McKusick-Dungy-Kaufman syndrome)].
The McKusick-Dungy-Kaufman syndrome is characterized by hydrometrocolpos, polydactyly and congenital heart disease. Two of these 3 main symptoms should be present for the diagnosis. Associated anomalies are mainly found in the urogenital tract, the gastro-intestinal tract and the skeletal system. On the basis of 2 patients and the literature the clinical features and the genetic aspects of this syndrome are reviewed. The clinical variability and the severity of the syndrome are stressed. Evidence for an autosomal recessive inheritance is given. Because of the clinical variability it seems preferable to use the term complex rather than syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005836:Genitalia, Female / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D010375:Pedigree; D013577:Syndrome
Hydrometrocolpos, polydactylie en aangeboren hartafwijking (het McKusick-Dungy-Kaufman syndroom).