Schinzel-Giedion syndrome: report of two sibs.
We report on two further cases, a sister and a brother, with Schinzel-Giedion syndrome. Both presented the following manifestations: "coarse face" with midface retraction, agenesis of corpus callosum, bilateral hydronephrosis, and typical skeletal anomalies. Patient 1 had a malignant sacrococcygeal teratoma. This is the third case of malignancy in this syndrome. Patient 2 died shortly after birth.
Antich
J
J
Secció de Genètica, Hospital Sant Joan de Deu, Barcelona, Spain.
Manzanares
R
R
Camarasa
F
F
Krauel
X
X
Vila
J
J
Cusi
V
V
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D005145:Face / Q000002:abnormalities*; D005190:Family; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012445:Sacrococcygeal Region; D013577:Syndrome; D013724:Teratoma / Q000235:genetics*