All issues > Volume 24(2); 1981

Case Report

J Korean Pediatr Soc. 1981;24(2):153-163. Published online February 15, 1981.

Fanconi Anemia.

Sang Il Lee, Young Yul Koh, Jung Gi Suh, Hyo Seop Ahn, Chang Yee Hong

¹Dept, of Pediatrics，College of Medicine, Seoul National Univ.

Abstract

Five cases of Fanconi anemia were observed during these 7 *years. It acounts for about 6.7% of the total 75 aplastic anemia seen during those same period in SNUH. Three were boys and two were girls. The initial symptom was nasal bleeding or pallor which observed between the age of 2 years and 6 years. They all revealed growth retardation and they were born small with low Apgar score except the for case 3 whose birth history could not be taken. They have following congenital anomalies. Case 1： PDA, polydactyly Case 2- hyperpigmented skin and chromosomal breakage Case 3： microcephaly, absence of both thumbs and radii, and hyperpigmented skin Case 4: Elder brother of the case 5. syndactyly and polydactyly, and hyperpigmented skin Case 5: hyperpigmented skin The first 3 cases were treated with androgen and prednisolone and they responded except the case 3. But two were expired within 3 years after diagnosis due to suspicious intra-cranial hemorrhage and sepsis. Also the case 4 was expired 1 year after the diagnosis because of unknown disease.

Keywords :Fanconfs anemia;Chromosomal abnormality;Congenital anomalies