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Schinzel-Giedion syndrome and alacrima: A case first described in 1996

✍ Scribed by Manouvrier-Hanu, Sylvie

Publisher: John Wiley and Sons
Year: 2003
Tongue: English
Weight: 85 KB
Volume: 120A
Category: Article
ISSN: 0148-7299
DOI: 10.1002/ajmg.a.20235

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✦ Synopsis

It is with a great interest that I have read the article by : Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.

The authors describe two male patients with classical Schinzel-Giedion syndrome (SGS). They describe associated findings such as severe neurodegenerative process with drug-resistant epilepsy, mixed deafness and urinary tract dilatation (megacalycosis or hydronephrosis) which were described previously. However, Minn et al. [2002] stated that ''alacrima and corneal hypo-

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