A Case of Chromosome Eighteen Trisomy Syndrome with Hypertrichosis

Abstract

Chromosome eighteen trisomy syndrome is a multiple malformation syndrome with chromosomal abnormalities. There are very few related reports in the field of dermatology. A 4-day-old female child was seen in our clinic because of hypertrichosis. She was born on Mar. 26, 1983. Pregnancy and delivery were apparently normal. At the time of birth, the mother was 27 and the father 28. There was no consanguinity. The patient weighted 1,920 gm and was sent to our center for premature babies because of cyanosis, low weight, heart murmur and ectodermal malformation. The ears were low set with slight malformation of the auricles. The nose seemed normal except for a slight obstruction of the post pharyngeal region. Overlapping fingers and a short sternum were present. Systolic murmur was heard in the III and IV intercostal space. Findings of overriding aorta, and high VSD and ASD were observed on the heart echogram. There appeared to be hypertonia in the extremities. The number of chromosomes was 47 in the peripheral blood culture and eighteen trisomy was confirmed. Dermatologically, there was redness of the skin, and punctate purpura or the abdominal region. Short, hard, black hair was present over the back, buttocks and extremities. Histopathologically, the number of follicles was increased. There were no changes in the morphology of the hair follicles. The infant died of respiratory insufficiency on the 23rd postnatal day.