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Review
. 2002 May 1;109(3):211-7.
doi: 10.1002/ajmg.10348.

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases

David Minn  1 , Dominique Christmann, Anne De Saint-Martin, Yves Alembik, Mylène Eliot, Geneviève Mack, Michel Fischbach, Jacques Flament, Francis Veillon, Hélène Dollfus
Affiliations
Review

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases

David Minn et al. Am J Med Genet. .

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.

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