title: Schinzel-Giedion syndrome.
abstract: We describe a female infant with the Schinzel-Giedion syndrome. Features present in 11 patients include coarse face, midface retraction, urogenital anomalies, poor skull vault mineralisation and variable anomalies of the long bones. Outcome is poor and mental retardation is the rule among survivors. Prenatal diagnosis seems unreliable. Facial features change dramatically with age and diagnosis is likely to be easily missed beyond the neonatal period. No metabolic defect has been detected. Inheritance is probably autosomal recessive.
authors.affiliation: Centre de Génétique, Université de Liège, CHU Sart Tilman, Belgium.
authors.forename: A
authors.initials: A
authors.lastname: Verloes
authors.forename: D
authors.initials: D
authors.lastname: Moës
authors.forename: L
authors.initials: L
authors.lastname: Palumbo
authors.forename: C
authors.initials: C
authors.lastname: Elmer
authors.forename: A
authors.initials: A
authors.lastname: François
authors.forename: G
authors.initials: G
authors.lastname: Bricteux
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D001842:Bone and Bones / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D010641:Phenotype; D012886:Skull / Q000002:abnormalities*; D013577:Syndrome; D014564:Urogenital Abnormalities