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Costello syndrome: three sporadic cases

Korean Journal of Pediatrics 2007;50(10):1024-1029.
Published online October 15, 2007.
Costello syndrome: three sporadic cases
Ji Youn Kim1, Mi Jeong Kim2, Eun Song Song2, Young Kuk Cho2, Young Youn Choi2, Jae Sook Ma2
1Department of* Pediatrics, St Carollo Hospital, Sunchon, Korea
2Department of Pediatrics, School of Medicine, Chonnam National University, Gwangju, Korea
Costello 증후군 3례
김지윤1, 김미정2, 송은송2, 조영국2, 최영륜2, 마재숙2
1성가롤로병원 소아과
2전남대학교 의과대학 소아과학교실
Young Youn Choi, Email: yychoi@chonnam.ac.kr
Costello syndrome (CS) is a rare multiple congenital abnormality syndrome characterized by a typical coarse face, developmental delay, psychomotor and growth retardation, neurologic abnormalities, cardiac and cutaneous anomalies, severe feeding difficulties with postnatal growth failure, and increased risk of tumors. Since Costello first described it in 1971 and again in 1977, over 100 cases have been reported worldwide. It was recently shown that CS is a congenital condition caused by heterozygous de novo missense mutations affecting the codon for glycine 12 or 13 of the HRAS gene. We experienced three unrelated cases with coarse faces, developmental delays, short statures, macrocephaly, and redundant skin with deep palmar and plantar creases, hypertrophic cardiomyopathy and atrial tachycardia, which are characteristic of CS.
Key Words: Costello syndrome, Maxillofacial abnormality, Developmental disabilities, Hypertrophic cardiomyopathy

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