title: Schinzel-Giedion syndrome: report of two sibs.
abstract: 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.
authors.affiliation: Secció de Genètica, Hospital Sant Joan de Deu, Barcelona, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Antich
authors.forename: R
authors.initials: R
authors.lastname: Manzanares
authors.forename: F
authors.initials: F
authors.lastname: Camarasa
authors.forename: X
authors.initials: X
authors.lastname: Krauel
authors.forename: J
authors.initials: J
authors.lastname: Vila
authors.forename: V
authors.initials: V
authors.lastname: Cusi
mesh_terms: 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*