Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.
Minn D, Christmann D, De Saint-Martin A, Alembik Y, Eliot M, Mack G, Fischbach M, Flament J, Veillon F, Dollfus H.
Minn D, et al.
Am J Med Genet. 2002 May 1;109(3):211-7. doi: 10.1002/ajmg.10348.
Am J Med Genet. 2002.
PMID: 11977181
Review.
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. ...
Schinzel-Giedion syndrome is a rare multiple congenital malformation syndrome defined by an evocative midfacial retract …