Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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Costello syndrome: three sporadic cases

Costello 증후군 3례

  • Kim, Ji Youn (Department of Pediatrics, St Carollo Hospital) ;
  • Kim, Mi Jeong (Department of Pediatrics, School of Medicine, Chonnam National University) ;
  • Song, Eun Song (Department of Pediatrics, School of Medicine, Chonnam National University) ;
  • Cho, Young Kuk (Department of Pediatrics, School of Medicine, Chonnam National University) ;
  • Choi, Young Youn (Department of Pediatrics, School of Medicine, Chonnam National University) ;
  • Ma, Jae Sook (Department of Pediatrics, School of Medicine, Chonnam National University)
  • 김지윤 (성가롤로병원 소아과) ;
  • 김미정 (전남대학교 의과대학 소아과학교실) ;
  • 송은송 (전남대학교 의과대학 소아과학교실) ;
  • 조영국 (전남대학교 의과대학 소아과학교실) ;
  • 최영륜 (전남대학교 의과대학 소아과학교실) ;
  • 마재숙 (전남대학교 의과대학 소아과학교실)
  • Received : 2007.08.01
  • Accepted : 2007.09.11
  • Published : 2007.10.15
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Abstract

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.

Costello 증후군은 특징적 얼굴 형태(coarse face), 발달 장애, 지능 저하, 성장 지연, 신경학적 이상, 심근증, 피부 병변, 수유 장애, 상대적 대두증, 소관절의 과신전, 고형종 발생 증가 등을 특징으로 하는 드문 증후군으로 1977년 Costello에 의해 처음으로 보고되었으며, 이후 전세계적으로 약 100례 이상이 보고되었다. 최근 Costello 증후군은 HRAS 유전자 내의 glycine 12 또는 13 codon을 침범하는 de novo mutation에 의해 발생하는 것으로 알려져 있다. 저자들은 특징적인 얼굴 형태와 지능 저하, 대두증, 손과 발의 과도한 주름, 비후성 심근증과 심방성 빈맥으로 특징지어지는 Costello 증후군으로 진단된 환아 3례를 경험하였기에 이를 보고하는 바이다.

Keywords

References

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