title: A Schinzel-Giedion-like syndrome--a milder version or a separate condition?
abstract: We report two 12-year-old monozygotic twins followed from birth. Their features include midface hypoplasia, a prominent forehead, coarse features, sensorineural deafness, short stature with thoracic kyphosis and lumbar lordosis and intellectual delay. As they have developed, their features have been reminiscent of a storage disorder but mucopolysaccharidoses, mucolipidoses and gangliosidoses have been excluded by biochemical testing. We discuss the phenotypic overlap with the Schinzel-Giedion syndrome but highlight the important differences. Individuals with Schinzel-Giedion syndrome tend to have renal and cardiac malformations and to have a very poor outlook, often dying in the first 3 years of life. We suggest that these twins have a previously undescribed Schinzel-Giedion like syndrome.
authors.affiliation: Duncan Guthrie Institute of Medical Genetics, Royal Hospital for Sick Children, Yorkhill, Glasgow G3 8SJ, UK. shelagh.joss@yorkhill.scot.nhs.uk
authors.forename: Shelagh
authors.initials: S
authors.lastname: Joss
authors.forename: John C S
authors.initials: JC
authors.lastname: Dean
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D002648:Child; D002658:Developmental Disabilities / Q000473:pathology; D005145:Face / Q000002:abnormalities*; D019066:Facies; D006319:Hearing Loss, Sensorineural / Q000473:pathology*; D006801:Humans; D007738:Kyphosis / Q000473:pathology; D008141:Lordosis / Q000473:pathology; D014430:Twins, Monozygotic