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Barber-Say syndrome: Report of a new case

✍ Scribed by Mazzanti, L.; Bergamaschi, R.; Neri, I.; Perri, A.; Patrizi, A.; Cacciari, E.; Forabosco, A.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 32 KB
Volume: 78
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980630)78:2<188::aid-ajmg19>3.0.co;2-j

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✦ Synopsis

We present a girl with lax, redundant skin, ectropion, bulbous nose, macrostomia, and absence of mammary glands. To our knowledge, she represents the fourth described case of Barber-Say Syndrome (BSS). BSS and ablepharon macrostomia syndrome (AMS) share common and distinctive clinical manifestations that involve the same structure of the skin and adnexa. We hypothesize that they may derive from a defective regulation of the same gene. Am.

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