Coffin-Siris syndrome: a case of an extremely low birthweight infant with severe kyphoscoliosis

Acta Paediatrica Japonica; Overseas Edition
H SuzumuraT Ichimura

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.

References

Jul 1, 1978·American Journal of Diseases of Children·J C Carey, B D Hall
Apr 1, 1985·Archives of Neurology·W A DeBassioJ E Knoefel
Nov 1, 1970·American Journal of Diseases of Children·C S Bartsocas, A K Tsiantos

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Citations

Feb 15, 2001·American Journal of Medical Genetics·B J FleckJ Bodurtha
Oct 22, 2009·Fetal and Pediatric Pathology·Daniel PollonoAgustina Pollono
Dec 11, 2020·NPJ Genomic Medicine·Stephen F KingsmoreCharlotte Hobbs

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