A new syndrome: heart defects, laryngeal anomalies, preaxial polydactyly, and colonic aganglionosis in sibs.
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.
Huang
T
T
Division of Genetics and Metabolism, Children's Hospital, Howard Hughes Medical Institute, Harvard Medical School, Boston, MA, USA.
Elias
E R
ER
Mulliken
J B
JB
Kirse
D J
DJ
Holmes
L B
LB
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