Volume 15, Number 3, September 2003

Coffin Siris Syndrome

Osamu Iwamoto, Chihiro Koga, Hajime Matsumoto, Shinichiro Terasaki, Jingo Kusukawa, Tadamitsu Kameyama

Department of Oral and Maxillofacial Surgery, Kurume University School of Medicine, Kurume, Japan

A 9-month-old boy with Coffin Siris syndrome is described. Characteristic features include eyebrow hypertrichosis, long eyelashes, flat nasal bridge, prominent philtrum, hypoplasia or absence of the distal phalanges, high palate, and enlarged gingiva. The child's condition worsened and he ultimately died of multiple organ failure at the age of 5 years and 3 months.

Key words:
Autosomal recessive inheritance, Hypolasia, Kyphosis, Mental retardation, Scoliosis

Asian J Oral Maxillofac Surg. 2003;15:205-207.
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