title: Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis.
abstract: A case of Coffin-Siris syndrome in a male of extremely low birthweight with severe kyphoscoliosis is reported. His birthweight was 965 g, the lowest reported in the world for an infant with this syndrome. Coffin-Siris syndrome is characterized by nail hypoplasia of the fingers and toes, eyebrow hypertrichosis, prominent lips and prenatal or postnatal growth retardation. He was the only case who was mechanically ventilated 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 birthweight infants, and because he easily suffered from upper respiratory infection as a result of Coffin-Siris syndrome. Kyphoscoliosis is suggested as one of the important features in low birthweight cases of Coffin-Siris syndrome in previous reports and in the present case.
authors.affiliation: First Department of Pediatrics, Dokkyo University School of Medicine, Tochigi, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Suzumura
authors.forename: K
authors.initials: K
authors.lastname: Sakurai
authors.forename: K
authors.initials: K
authors.lastname: Kano
authors.forename: T
authors.initials: T
authors.lastname: Ichimura
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D017809:Fatal Outcome; D006801:Humans; D006983:Hypertrichosis / Q000151:congenital*; D007231:Infant, Newborn; D019102:Infant, Very Low Birth Weight; D007738:Kyphosis / Q000151:congenital* / Q000000981:diagnostic imaging; D008297:Male; D008831:Microcephaly / Q000150:complications*; D009264:Nails, Malformed; D011859:Radiography; D012600:Scoliosis / Q000151:congenital* / Q000000981:diagnostic imaging; D013577:Syndrome