New dysmorphic syndrome with choanal atresia in siblings.
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.
Burn
J
J
Division of Human Genetics, University of Newcastle-upon-Tyne, UK.
McKeown
C
C
Wagget
J
J
Bray
R
R
Goodship
J
J
D000015:Abnormalities, Multiple / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D002754:Choanal Atresia / Q000235:genetics*; D002887:Chromosomes, Human, Pair 18; D003638:Deafness / Q000235:genetics; D004423:Ear / Q000002:abnormalities; D005124:Eye Abnormalities / Q000235:genetics; D005143:Eyelids / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D012303:Ring Chromosomes; D013577:Syndrome