✦ LIBER ✦

Young-Simpson syndrome comprising transient hypothyroidism, normal growth, macular degeneration and torticolis

✍ Scribed by Kondoh, Tatsuro; Kinoshita, Eiichi; Moriuchi, Hiroyuki; Niikawa, Norio; Matsumoto, Tadasi; Masuno, Mitsuo

Publisher: John Wiley and Sons
Year: 2000
Tongue: English
Weight: 9 KB
Volume: 90
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(20000103)90:1<85::aid-ajmg17>3.0.co;2-r

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✦ Synopsis

flects his euthyroid status. Third, our patient had bilateral macular degeneration of the ocular fundus, a torticolis, mild talipes equinovarus, and patellar dislocation. These manifestations are thus far undescribed. Whether they are causally related to YSS remains to be seen.