[McKusick-Kaufman syndrome in a new born girl (author's transl)].
In a newborn, the presence of an abdominal tumor due to hydrocolpos resulting from vaginal atresia, with polydactyly and a congenital heart disease suggest the diagnosis of McKusick-Kaufman syndrome. This syndrome is different from the Ellis Van Creveld syndrome, which also includes polydactyly and congenital heart disease, associated with "chondrodysplasia' and "ectodermodysplasia'.
D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000002:abnormalities*; D003937:Diagnosis, Differential; D004613:Ellis-Van Creveld Syndrome / Q000175:diagnosis; D005260:Female; D006330:Heart Defects, Congenital; D006801:Humans; D007231:Infant, Newborn; D013577:Syndrome; D014621:Vagina / Q000002:abnormalities*
Syndrome de McKusick-Kaufman, chez un nouveau-né de sexe féminin.