title: Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature.
abstract: The authors report two cases of the rare concurrence of intestinal aganglionosis and Waardenburg syndrome in Japanese infants. The patients were a 1-month-old girl and a 3-month-old boy at diagnosis, and both of them had either short segment or ultra-short segment aganglionosis. A review of 48 cases in the literature showed that the extent of the aganglionic segment is quite variable, from nearly total to ultra-short. The clinical features of aganglionosis in Waardenburg syndrome would appear to bear similarity in sex ratio and the extent of aganglionosis with those of Hirschsprung's disease associated with Ondine's curse, another type of neurocristopathy.
authors.affiliation: Department of Surgery, Gunma Children's Medical Center, 779 Shimohakoda, Hokkitsu, Seta-gun, Gunma 377-8577, Japan.
authors.forename: Fumiaki
authors.initials: F
authors.lastname: Toki
authors.forename: Norio
authors.initials: N
authors.lastname: Suzuki
authors.forename: Ken
authors.initials: K
authors.lastname: Inoue
authors.forename: Makoto
authors.initials: M
authors.lastname: Suzuki
authors.forename: Kyoko
authors.initials: K
authors.lastname: Hirakata
authors.forename: Kyoko
authors.initials: K
authors.lastname: Nagai
authors.forename: Minoru
authors.initials: M
authors.lastname: Kuroiwa
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
authors.forename: Yoshiaki
authors.initials: Y
authors.lastname: Tsuchida
mesh_terms: D015897:Comorbidity; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D006609:High Mobility Group Proteins / Q000235:genetics; D006627:Hirschsprung Disease / Q000453:epidemiology* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D055757:SOXE Transcription Factors; D014157:Transcription Factors; D014849:Waardenburg Syndrome / Q000453:epidemiology* / Q000235:genetics
chemical_list: D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors; D014157:Transcription Factors