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A Case of 4P-Syndrome.

Journal of the Korean Pediatric Society 1988;31(10):1366-1370.
Published online October 31, 1988.
A Case of 4P-Syndrome.
Hong Kyu Lee1, Sung Sik Lee1, Soon Il Lee1, Young Seok Lee2, Kweon Ha Son3
1Department of Pediatrics, Sohwa Children fs Hospital. Seoul, Korea
2Department of Radiology, Sohwa Children fs Hospital. Seoul, Korea
3Department of Pediatrics, Yonsei University, College of Medicine, Seoul, Korea
4P- (Wolf-Hirschhorn) 증후군 1 례
이홍규1, 이성식1, 이순일1, 이영석2, 손권하3
1소화아동병원 소아과
2소화아동병원 방사선과
3연세대학교 의과대학 소아과학교실
Received: 10 September 1987   • Accepted: 10 May 1988
Abstract
The first short arm deletion syndrome in human was described by Lejeune et al. in 1963. This has been labelled the 5p- syndrome. It was given the name ‘cri du chat` because of the characteristic kitten like cry of these patients. Two years later, Wolf et al. demonstrated a second short arm deletion syndrome which had no kitten like cry, but had characteristic mid-line cranial defect. This has been labelled 4p_ syndrome. Until 1975, about 40 cases of 4p_ syndrome were reported. The authors experienced a patient of 4p- syndrome who admitted due to low birth weight and had prominent forehead, high arched palate, broad beak like nose, micrognathia and so on. On X-ray study, 14 pairs of ribs and 14 thoracic vertebrae, left proximal radioulnar synostosis were presented. Brain ultrasonography showed right ventricular cyst. Chromosome study showed 46, XX,del (4) (15p). A brief review of the literatures was also presented.
Key Words: 4P- (Wolf-Hirschhorn) Syndrome


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