Anorectal anomalies associated with Kabuki make-up syndrome.
A case report of a 3-year-old girl with Kabuki make-up syndrome (KMS) associated with anovestibular fistula is presented. To our knowledge, 62 patients with KMS have been reported in the literature, three of whom were described as having an anorectal anomaly. Including the present patient, all four KMS patients were females with anovestibular fistula.
Matsumura
M
M
Department of Pediatric Surgery, Kanagawa Children's Medical Center, Yokohama, Japan.
Yamada
R
R
Kitani
Y
Y
Nishi
T
T
Yamamoto
H
H
Oahama
Y
Y
Kuroki
Y
Y
D000015:Abnormalities, Multiple; D001003:Anal Canal / Q000002:abnormalities*; D002675:Child, Preschool; D005145:Face / Q000002:abnormalities*; D005260:Female; D006801:Humans; D008607:Intellectual Disability; D012007:Rectum / Q000002:abnormalities*; D013577:Syndrome