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Lower lip pits and anorectal anomalies in Kabuki syndrome
N M Kokitsu-Nakata1, S Vendramini, M L Guion-Almeida
1Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Brazil.
American Journal of Medical Genetics
|September 14, 1999
Abstract:
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].