A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs

Genet Med. Mar-Apr 1999;1(3):104-8. doi: 10.1097/00125817-199903000-00008.


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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child, Preschool
  • Cytogenetic Analysis
  • Female
  • Heart Defects, Congenital / diagnosis*
  • Hirschsprung Disease / diagnosis*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Karyotyping
  • Larynx / abnormalities*
  • Male
  • Nuclear Family
  • Polydactyly
  • Syndrome