Burn J, McKeown C, Wagget J, Bray R, Goodship J
Division of Human Genetics, University of Newcastle-upon-Tyne, UK.
Clin Dysmorphol. 1992 Jul;1(3):137-44.
We report five children from three families who presented with bilateral choanal atresia associated with a spectrum of additional malformations including cardiac defects, deafness, defects of the external ear, eyes and eye lids and a characteristic dysmorphic appearance. The children were of normal intelligence. This syndrome is distinct from CHARGE association.