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Lower lip pits and anorectal anomalies in Kabuki syndrome

✍ Scribed by Kokitsu-Nakata, Nancy Mizue; Vendramini, Siulan; Guion-Almeida, Maria Leine

Publisher: John Wiley and Sons
Year: 1999
Tongue: English
Weight: 17 KB
Volume: 86
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19990917)86:3<282::aid-ajmg17>3.0.co;2-q

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✦ Synopsis

We report on a Brazilian girl with Kabuki syndrome (KS) and lower lip pits and anorectal anomalies. To our knowledge, four patients with KS were described as having anorectal anomalies [Matsumura et al., 1992: J Ped Surg 27:1600-1602]. Lower lip pits were observed only in a KS patient described by Franceschini et al. [1993: Am J Med Genet 47:423-425].

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