Neurosonography and pathology in the Schinzel-Giedion syndrome.

Abstract

We describe a case of the Schinzel-Giedion syndrome, where increasing ventriculomegaly, intraventricular bands, and subependymal pseudocysts were shown by ultrasound of the head. Subsequent neuropathology confirmed the hydrocephalus.The Schinzel-Giedion syndrome is a rare form of lethal dwarfism. 1-3 Apart from physical abnormalities, these infants show gross neurological dysfunction. We report a further case, detailing the appearance of the brain on ultrasound and at necropsy. Case reportThis was the first pregnancy of an unmarried, healthy, 18 year old woman. The parents were unrelated. The mother was unsure of the date of her last menstrual period. At booking for antenatal care, the fetus was 34 to 35 weeks' gestation by ultrasound scan and there was polyhydramnios. Ten days later a baby girl of unusual appearance was born in good condition.The infant was markedly dysmorphic (fig 1). The facies were coarse with full cheeks and plentiful facial hair. The skull was brachycephalic with widely spaced sutures and a prominent forehead. The eyes were also widely spaced with periorbital oedema and a mongoloid slant. There was a snub nose with anteverted nostrils and a short philtrum. The ears were abnormally shaped and low set. The neck was very short. There were hypoplastic nipples, but otherwise the chest, heart, and abdominal exaiination was normal. A deep interlabial sulcus was noted, continuous with the fold of the buttock. Her limbs were short with very small hands and feet. There were bilateral simian creases. Head circumference at 31 cm and weight at 2100 g were on the third centile. Length at 39 cm was markedly below the third certile. The estimated gestation was 36 weeks by appearance, agreeing with the antenatal scan.Apart from initial hypoglycaemia (lowest blood sugar 1 1 mmol/l at 10 hours) routine haematology and biochemistry were normal. Chromosome analysis showed a normal female karyotype by Giemsa banding. Head ultrasound showed moderate dilatation of the third and lateral ventricles. The lateral ventricles also contained echogenic bands and there were large Department of Paediatrics, Dumfries and Galloway Royal Infirmary, Dumfries DGI 4AP.

A patient with Schinzel-Giedion syndrome and a review of 20 patients

“…So far 20 patients with the Schinzel-Giedion syndrome have been reported (Donnai and Harris, 1979;Kelley et al, 1982;Burck, 1982;Saal et al, 1989;Pul et al, 1990;AI-Gazali et al, 1990;Maclennan et al, 1991;Robin et al, 1993;Verloes et al, 1993;Herman et al, 1993;Labrune et al, 1994). We report a new patient with the Schinzel-Giedion syndrome and a review of the literature on the subject.…”

Non‐cardiac malformations in individuals with outflow tract defects of the heart: The Baltimore‐Washington infant study (1981–1989)

“…Two of our cases were diagnosed retrospectively as cases of Schinzel-Giedion syndrome, one of them had TGA-IVS (1991) and another one had DORV-NGA (1357). The patients reported previously had ASD, PDA, and dysplastic pulmonic valve [Schinzel and Giedion, 1978;Al-Gazali et al, 1990;Maclennan et al, 1991;Labrune et al, 19941. Tetraphocomelia and cleft lip and palate are the main manifestations of an autosomal recessive Roberts syndrome. More than 100 cases have been described [Van Den Berg and Francke, 19931 with CVM in 21 of them.…”

Schinzel‐Giedion syndrome: Report of two sibs

“…KEY WORDS: Schinzel-Giedion syndrome, sacrococcygeal teratoma, autosomal-recessive syndrome INTRODUCTION Schinzel-Giedion syndrome, first described in 1978 by the authors after whom it was named [Schinzel and Giedion, 19781, is a malformation syndrome characterized by midface "retraction," hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. So far, 21 cases have been reported [Schinzel and Giedion, 1978;Donnai and Harris, 1978;Kelley et al, 1982;Saal et al, 1989;Hall, 1989;Pul et al, 1990;Al-Gazali et., 1990;Maclennan et al, 1991;Robin et al, 1993;Verloes et al, 1993;Hermann et al, 1993;Cordeiro et al, 1993; Labrune et al, 19941. We report on two patients, sister and brother, affected with this condition.…”