Congenital anomalies in patients with choanal atresia: CHARGE-association
- PMID: 6489378
- DOI: 10.1007/BF00540250
Congenital anomalies in patients with choanal atresia: CHARGE-association
Abstract
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.
Similar articles
-
Posterior choanal atresia: a syndromal disorder.Laryngoscope. 1984 Oct;94(10):1273-6. doi: 10.1288/00005537-198410000-00002. Laryngoscope. 1984. PMID: 6482622
-
Coloboma, congenital heart disease, and choanal atresia with multiple anomalies: CHARGE association.J Pediatr. 1981 Aug;99(2):223-7. doi: 10.1016/s0022-3476(81)80454-4. J Pediatr. 1981. PMID: 6166737
-
Choanal atresia and associated multiple anomalies.J Pediatr. 1979 Sep;95(3):395-8. doi: 10.1016/s0022-3476(79)80513-2. J Pediatr. 1979. PMID: 469662
-
CHARGE syndrome: report of 47 cases and review.Am J Med Genet. 1998 Apr 13;76(5):402-9. doi: 10.1002/(sici)1096-8628(19980413)76:5<402::aid-ajmg7>3.0.co;2-o. Am J Med Genet. 1998. PMID: 9556299 Review.
-
[CHARGE association: report of a case with literature review].J Formos Med Assoc. 1993 Sep;92 Suppl 3:S146-51. J Formos Med Assoc. 1993. PMID: 7906167 Review. Chinese.
Cited by
-
Three novel mutations of CHD7 gene in two turkish patients with charge syndrome; A double point mutation and an insertion.Balkan J Med Genet. 2015 Dec 30;18(1):65-70. doi: 10.1515/bjmg-2015-0007. eCollection 2015 Jun. Balkan J Med Genet. 2015. PMID: 26929907 Free PMC article.
-
Congenital heart disease in CHARGE association.Pediatr Cardiol. 1993 Mar;14(2):75-81. doi: 10.1007/BF00796983. Pediatr Cardiol. 1993. PMID: 8469635
-
Limb anomalies in the CHARGE association.J Med Genet. 1989 Mar;26(3):202-3. doi: 10.1136/jmg.26.3.202. J Med Genet. 1989. PMID: 2468773 Free PMC article.
-
The eye in the CHARGE association.Br J Ophthalmol. 1990 Jul;74(7):421-6. doi: 10.1136/bjo.74.7.421. Br J Ophthalmol. 1990. PMID: 2378857 Free PMC article.