COFFIN-SIRIS SYNDROME - A CASE OF AN EXTREMELY LOW-BIRTH-WEIGHT INFANT WITH SEVERE KYPHOSCOLIOSIS

A case of Coffin-Siris syndrome in a male of extremely low birthweight with severe kyphoscoliosis is reported. His birthweight was 965 g, th e lowest reported in the world for an infant with this syndrome. Coffi n-Siris syndrome is characterized by nail hypoplasia of the fingers an d toes, eyebrow hypertrichosis, prominent lips and prenatal or postnat al growth retardation. He was the only case who was mechanically venti lated from birth because of birth asphyxia. He died at 12 days of age because of sepsis, a poor immune system as in other extremely low birt hweight infants, and because he easily suffered from upper respiratory infection as a result of Coffin-Siris syndrome. Kyphoscoliosis is sug gested as one of the important features in low birthweight cases of Co ffin-Siris syndrome in previous reports and in the present case.