Lower lip pits and anorectal anomalies in Kabuki syndrome.
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].
Kokitsu-Nakata
N M
NM
Hospital de Reabilitação de Anomalias Craniofaciais, Universidade de São Paulo, Bauru, Brazil.
Vendramini
S
S
Guion-Almeida
M L
ML
D000015:Abnormalities, Multiple / Q000235:genetics*; D001003:Anal Canal / Q000002:abnormalities*; D002648:Child; D019066:Facies; D005260:Female; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008046:Lip / Q000002:abnormalities*; D008831:Microcephaly / Q000235:genetics; D012007:Rectum / Q000002:abnormalities*; D013577:Syndrome