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The CHARGE association in a newborn infant.
Turk J Pediatr. 1998 Apr-Jun; 40(2):283-7.TJ

Abstract

CHARGE association is the nonrandom association of congenital anomalies, including choanal atresia, coloboma, heart defects, retardation of growth and development, genital hypoplasia and ear abnormalities. We report a male newborn infant with CHARGE association. Other congenital abnormalities include micrognathia, high-arched palate, facial asymmetry, broad nasal bridge, hypertelorism, asymmetric eye size, and left microphthalmia. On radiologic examination, hemivertebrae were detected on the thoracal vertebrae. Although both autosomal and recessive transmission have been reported, most cases of CHARGE association have been sporadic (karyotype analysis is generally reported to be normal as in our patient). Transmission and recurrence risk of this association are not known. The presence of choanal atresia and/or coloboma must alert the clinician to search for other abnormalities for diagnosis of CHARGE association.

Authors+Show Affiliations

Ege University Faculty of Medicine, Izmir.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

9714686

Citation

Akisü, M, et al. "The CHARGE Association in a Newborn Infant." The Turkish Journal of Pediatrics, vol. 40, no. 2, 1998, pp. 283-7.
Akisü M, Ozkinay F, Ozyürek R, et al. The CHARGE association in a newborn infant. Turk J Pediatr. 1998;40(2):283-7.
Akisü, M., Ozkinay, F., Ozyürek, R., Küçüktaş, A., & Kültürsay, N. (1998). The CHARGE association in a newborn infant. The Turkish Journal of Pediatrics, 40(2), 283-7.
Akisü M, et al. The CHARGE Association in a Newborn Infant. Turk J Pediatr. 1998 Apr-Jun;40(2):283-7. PubMed PMID: 9714686.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - The CHARGE association in a newborn infant. AU - Akisü,M, AU - Ozkinay,F, AU - Ozyürek,R, AU - Küçüktaş,A, AU - Kültürsay,N, PY - 1998/8/26/pubmed PY - 1998/8/26/medline PY - 1998/8/26/entrez SP - 283 EP - 7 JF - The Turkish journal of pediatrics JO - Turk J Pediatr VL - 40 IS - 2 N2 - CHARGE association is the nonrandom association of congenital anomalies, including choanal atresia, coloboma, heart defects, retardation of growth and development, genital hypoplasia and ear abnormalities. We report a male newborn infant with CHARGE association. Other congenital abnormalities include micrognathia, high-arched palate, facial asymmetry, broad nasal bridge, hypertelorism, asymmetric eye size, and left microphthalmia. On radiologic examination, hemivertebrae were detected on the thoracal vertebrae. Although both autosomal and recessive transmission have been reported, most cases of CHARGE association have been sporadic (karyotype analysis is generally reported to be normal as in our patient). Transmission and recurrence risk of this association are not known. The presence of choanal atresia and/or coloboma must alert the clinician to search for other abnormalities for diagnosis of CHARGE association. SN - 0041-4301 UR - https://www.unboundmedicine.com/medline/citation/9714686/The_CHARGE_association_in_a_newborn_infant_ L2 - http://www.diseaseinfosearch.org/result/1315 DB - PRIME DP - Unbound Medicine ER -