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.
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Huang, T., Elias, E., Mulliken, J. et al. A new syndrome: Heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs. Genet Med 1, 104–108 (1999). https://doi.org/10.1097/00125817-199903000-00008
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DOI: https://doi.org/10.1097/00125817-199903000-00008
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