title: Three new cases of the Schinzel-Giedion syndrome and review of the literature.
abstract: Three fetuses with normal chromosomes were found to have uni- or bilateral hydronephrosis during the third trimester of pregnancy. At birth, they presented with coarse face, hypertelorism, and a deep groove under the eyes. Fontanelles and sutures were wide open. Genital abnormalities were present in 2 cases. Skeletal radiographs showed delayed bone maturation, broad and dense ribs, and a wide synchondrosis between the exoccipital and supraoccipital bones. The combination of such findings suggested the diagnosis of Schinzel-Giedion syndrome. Two patients died soon after birth, whereas the third one developed severe mental and motor retardation with seizures and spasticity, and died at 18 months. Schinzel-Giedion syndrome is rare and likely to be inherited as an autosomal recessive trait. So far, 13 well-documented cases have been reported allowing major and minor traits of the syndrome to be distinguished. Since no genetic marker is available, the prenatal diagnosis of Schinzel-Giedion syndrome relies on ultrasound examination, especially detection of renal abnormalities.
authors.affiliation: Service de Pédiatrie, Hôpital Antoine Béclère, Clamart, France.
authors.forename: P
authors.initials: P
authors.lastname: Labrune
authors.forename: S
authors.initials: S
authors.lastname: Lyonnet
authors.forename: V
authors.initials: V
authors.lastname: Zupan
authors.forename: M C
authors.initials: MC
authors.lastname: Imbert
authors.forename: F
authors.initials: F
authors.lastname: Goutieres
authors.forename: P
authors.initials: P
authors.lastname: Hubert
authors.forename: M
authors.initials: M
authors.lastname: Le Merrer
mesh_terms: D000015:Abnormalities, Multiple; D001842:Bone and Bones / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities*; D005260:Female; D005835:Genitalia / Q000002:abnormalities*; D006801:Humans; D006869:Hydronephrosis / Q000151:congenital*; D007231:Infant, Newborn; D008297:Male; D013577:Syndrome