| A Case of 4P-Syndrome. |
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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 |
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이홍규1, 이성식1, 이순일1, 이영석2, 손권하3 |
1소화아동병원 소아과
2소화아동병원 방사선과
3연세대학교 의과대학 소아과학교실 |
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Received: 10 September 1987 • Accepted: 10 May 1988 |
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| Abstract |
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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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