All issues > Volume 24(10); 1981

Case Report

J Korean Pediatr Soc. 1981;24(10):968-972. Published online October 15, 1981.

A Case of D1-Trisomy Syndrome.

Soon Hee Choi, Seung Joo Lee, Keun Lee

¹Department of Pediatrics, College of Medicine, Ewha Womans University Seoul, Korea.

Abstract

One cases of D1-Trisomy Syndrome which was confirmed by chromosome study at Ewha Womans University Hospital is presented. The premature female infant was delivered spontaneously at 36 1/2 weeks of gestation at Ewha Womans University. The family and antenatal history were not remarkable except ingestion of some kinds of antibiotics and anti-inflammatory drugs during the first trimester. On physical examination soon after birth, multiple abnormalities such as microcephaly, microphthalmia, small low-set ears, absence of external auditory canal, cleft palate and lip, marked abdominal distension, and huge palpable mass in the abdomen, polydactly and various deformity of foot, were found, Cystic kidney was noted on necropsy material of abdominal mass. Chromosome study was done and revealed the extrachromosome in D group This is presumably the first case of confirmed D1-Trisomy in Korea which was consistent with clinical pictures of multiple abnormalies of this syndrome and the brief review of literature was presented.

Keywords :D1-Trisomy Syndrome