title: Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.
abstract: Schinzel-Giedion syndrome is a rare multiple congenital malformation syndrome defined by an evocative midfacial retraction, kidney and urinary malformations and multiple skeletal abnormalities associated to a recently described neurodegenerative process. Two children with SGS are reported with identical clinical findings: megacalycosis, progressive neurodegeneration with infantile spasms and hypsarrhymtic activity. Ocular investigations revealed alacrimia and corneal hypoesthesia. Computed tomography of the temporal bone showed a tuning-fork malformation of the stapes for both children. These features may contribute to further delineation of SGS as additional clinical criteria.
authors.affiliation: Fédération de Pédiatrie, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
authors.forename: David
authors.initials: D
authors.lastname: Minn
authors.forename: Dominique
authors.initials: D
authors.lastname: Christmann
authors.forename: Anne
authors.initials: A
authors.lastname: De Saint-Martin
authors.forename: Yves
authors.initials: Y
authors.lastname: Alembik
authors.forename: Mylène
authors.initials: M
authors.lastname: Eliot
authors.forename: Geneviève
authors.initials: G
authors.lastname: Mack
authors.forename: Michel
authors.initials: M
authors.lastname: Fischbach
authors.forename: Jacques
authors.initials: J
authors.lastname: Flament
authors.forename: Francis
authors.initials: F
authors.lastname: Veillon
authors.forename: Hélène
authors.initials: H
authors.lastname: Dollfus
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology*; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000473:pathology*; D004569:Electroencephalography; D004596:Electroretinography; D005072:Evoked Potentials, Auditory / Q000502:physiology; D005128:Eye Diseases / Q000473:pathology* / Q000503:physiopathology; D006330:Heart Defects, Congenital / Q000473:pathology*; D006801:Humans; D006869:Hydronephrosis / Q000473:pathology; D007223:Infant; D008607:Intellectual Disability / Q000473:pathology*; D007621:Karyotyping; D008297:Male; D013199:Stapes / Q000002:abnormalities* / Q000503:physiopathology; D013577:Syndrome