All issues > Volume 30(6); 1987

Case Report

J Korean Pediatr Soc. 1987;30(6):695-700. Published online June 30, 1987.

A Case of Holoprosencephaly.

Byung Chun Suh¹, Soon Sup Jang¹, In Joon Seol¹, Soo Jee Moon¹, Chong Moo Park¹, Seok Chol Jeon²

¹Department of Pediatrics, College of Medicine, Hanyang University, Seoul, Korea
²Department of Radiology, College of Medicine, Hanyang University, Seoul, Korea

Abstract

We experienced a case of holoprosencephaly with extracranial abnormalities, including orbital hypotelorism, median cleft lip without philtrum, flat nasal bridge, flat face, and microcephaly and with a karyotype, 46 XX, 22p+. The diagnosis was confirmed by brain CT scan & brain ultrasonography, and the findings were compatible with an alobar type of holoprosencephaly. The patients died at 26 days of age. A brief review of the literature concerning holoprosencephaly is also presented.

Keywords :H oloprosencephaly