title: A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs.
abstract: We present two siblings, one male and one female, who have heart defects, duplication of toes, airway anomalies, and aganglionosis. The brother also has a bilateral complete cleft lip and palate. His airway anomalies include short epiglottis and aryepiglottic folds, which are different from his sister who has a bifid epiglottis with a central epiglottic mass. Both siblings have had some developmental delay. This constellation of anomalies appears to be unique and may represent a new autosomal recessive disorder.
authors.affiliation: Division of Genetics and Metabolism, Children's Hospital, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA, USA.
authors.forename: T
authors.initials: T
authors.lastname: Huang
authors.forename: E R
authors.initials: ER
authors.lastname: Elias
authors.forename: J B
authors.initials: JB
authors.lastname: Mulliken
authors.forename: D J
authors.initials: DJ
authors.lastname: Kirse
authors.forename: L B
authors.initials: LB
authors.lastname: Holmes
mesh_terms: D002675:Child, Preschool; D020732:Cytogenetic Analysis; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis*; D006627:Hirschsprung Disease / Q000175:diagnosis*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007223:Infant; D007621:Karyotyping; D007830:Larynx / Q000002:abnormalities*; D008297:Male; D009679:Nuclear Family; D017689:Polydactyly; D013577:Syndrome