All issues > Volume 31(10); 1988

Original Article

J Korean Pediatr Soc. 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

Received: September 10, 1987;  Accepted: May 10, 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.

Keywords :4P- (Wolf-Hirschhorn) Syndrome