The Schinzel-Giedion syndrome. A case report and review of the literature.
The authors discuss a 1-day-old boy who had Schinzel-Giedion syndrome. This is the fifth case reported in the literature, and it presents additional abnormalities that have not been reported previously. The Schinzel-Giedion syndrome includes facially dysmorphic, skeletal, cardiac, and genito-urinary anomalies, but mainly congenital hydronephrosis. The diagnosis can be made by clinical and radiological examinations.
Pul
M
M
Section of Pediatric Surgery, Karadeniz Technical University, Medical Faculty Farabi Hospital, Trabzon, Turkey.
Yilmaz
N
N
Komsuoglu
B
B
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging / Q000209:etiology*; D001842:Bone and Bones / Q000002:abnormalities; D005124:Eye Abnormalities / Q000150:complications; D006330:Heart Defects, Congenital / Q000150:complications; D006801:Humans; D006869:Hydronephrosis / Q000151:congenital / Q000209:etiology; D007231:Infant, Newborn; D008297:Male; D011859:Radiography; D013577:Syndrome; D014564:Urogenital Abnormalities