Congenital anomalies in patients with choanal atresia: CHARGE-association.
Six patients with both choanal atresia (ChA) and additional malformations are described and another 110 cases with this combination reviewed from the literature. Our study of these cases supports the existence of the CHARGE-association (Coloboma, Heart Disease, Atresia of choanae, Retarded mental development and growth, Genital hypoplasia, Ear anomalies and deafness). Our findings suggest the inclusion of orofacial clefts and oesophageal atresia among the main symptoms of this association. A certain degree of facial dysmorphism (low set, dysplastic ears, retrogenia, antimongoloid slant of palpebral fissures and anteverted nares) was observed in each of our cases. Infants with the bilateral type of ChA plus cardiac defects and those with ChA plus renal malformations have a high mortality rate. The aetiology of the association is not clear. The recurrence risk may be low.
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002657:Child Development; D003103:Coloboma / Q000175:diagnosis; D004431:Ear, External / Q000002:abnormalities; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis; D007668:Kidney / Q000002:abnormalities; D008297:Male; D009296:Nasal Cavity / Q000002:abnormalities*; D009305:Nasopharynx / Q000002:abnormalities*; D011379:Prognosis; D014513:Ureter / Q000002:abnormalities