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Macrostomia, hypertelorism, atrophic skin, severe hypertrichosis without ectropion: Milder form of Barber-Say Syndrome

✍ Scribed by Sod, Raquel; Izbizky, Gustavo; Cohen-Salama, María

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 11 KB
Volume: 73
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19971219)73:3<366::aid-ajmg25>3.0.co;2-g

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✦ Synopsis

We report on a child with macrostomia, hypertelorism, atrophic skin, and severe hypertrichosis (Barber-Say Syndrome). To our knowledge this is the first case of this condition without ectropion; it is also a less severe phenotype than those reported previously.

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