Clinical aspects, diagnosis, and treatment of the Kaufman syndrome (hydrocolpos, hypospadias, polydactyly).
Three girls with the Kaufmann syndrome are reported. In these children the hydrocolpos was not caused by a vaginal atresia but by a stenosis of the vaginal introitus combined with female hypospadias. These children suffered from additional micrognathia. The parents of two of the children suffered from additional micrognathia. The parents of two of the children were related to each other. No such family history could be discovered in the third child. It is possible that this syndrome is autosomal recessive and sexlinked. As the associated malformations may endanger life and therefore necessitate immediate operation, the hydrocolpos should be treated at first conservatively. Later on, corrective operations should be performed.
D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000196:embryology / Q000235:genetics; D006801:Humans; D007021:Hypospadias / Q000175:diagnosis* / Q000235:genetics / Q000601:surgery; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D013577:Syndrome; D014034:Toes / Q000002:abnormalities*; D014521:Urethra / Q000002:abnormalities* / Q000601:surgery; D014567:Urography; D014621:Vagina / Q000002:abnormalities* / Q000601:surgery