Lower lip pits and anorectal anomalies in Kabuki syndrome

Am J Med Genet. 1999 Sep 17;86(3):282-4. doi: 10.1002/(sici)1096-8628(19990917)86:3<282::aid-ajmg17>3.0.co;2-q.

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].

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Anal Canal / abnormalities*
  • Child
  • Facies
  • Female
  • Growth Disorders / genetics
  • Humans
  • Intellectual Disability / genetics
  • Lip / abnormalities*
  • Microcephaly / genetics
  • Rectum / abnormalities*
  • Syndrome