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The Coffin-Siris Syndrome: Five New Cases Including Two Siblings

The Coffin-Siris Syndrome: Five New Cases Including Two Siblings Abstract • Five new cases and one previously reported case of the Coffin-Siris syndrome are described. These cases plus the remaining four already published bring to ten the number of cases available for scrutiny. Constant features (100% frequency) include variable degrees of mental retardation, nail hypoplasia or absence with predominantly fifth digit involvement, hypotonia, infancy feeding problems, and retarded bone age. Frequent features (75% to 90%) include postnatal growth deficiency, microcephaly, wide nasal tip and mouth, prominent lips, eyebrow/eyelash hypertrichosis, and scalp hair hypotrichosis. Significant but less frequent findings include short philtrum (50%), scoliosis (40%), decreased fetal activity (40%), smallness for gestational age (30%), and congenital heart defects (30%). We found the craniofacial phenotype to be mild in the young infant, but progressively more characteristic with age. Autosomal recessive inheritance is suspected on the basis of our brother-and-sister pair. (Am J Dis Child 132:667-671, 1978) References 1. Coffin GS, Siris E: Mental retardation with absent fifth fingernail and terminal phalanx . Am J Dis Child 119:433-439, 1970. 2. Bartsocas CS, Tsiantos AK: Mental retardation with absent fifth fingernail and terminal phalanx . Am J Dis Child 120:493-494, 1970. 3. Weiswasser WH, Hall BD, Delavan GW, et al: Coffin-Siris syndrome: Two new cases . Am J Dis Child 125:838-840, 1973.Crossref 4. Smith DW: Recognizable Patterns of Human Malformation . Philadelphia, WB Saunders Co, 1976. 5. Ptacek LJ, Opitz JM, Smith DW, et al: The Cornelia de Lange syndrome . J Pediatr 63:1000-1020, 1963.Crossref 6. Hanson JW, Smith DW: The fetal hydantoin syndrome . J Pediatr 87:285-290, 1975.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

The Coffin-Siris Syndrome: Five New Cases Including Two Siblings

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Publisher
American Medical Association
Copyright
Copyright © 1978 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1978.02120320027005
Publisher site
See Article on Publisher Site

Abstract

Abstract • Five new cases and one previously reported case of the Coffin-Siris syndrome are described. These cases plus the remaining four already published bring to ten the number of cases available for scrutiny. Constant features (100% frequency) include variable degrees of mental retardation, nail hypoplasia or absence with predominantly fifth digit involvement, hypotonia, infancy feeding problems, and retarded bone age. Frequent features (75% to 90%) include postnatal growth deficiency, microcephaly, wide nasal tip and mouth, prominent lips, eyebrow/eyelash hypertrichosis, and scalp hair hypotrichosis. Significant but less frequent findings include short philtrum (50%), scoliosis (40%), decreased fetal activity (40%), smallness for gestational age (30%), and congenital heart defects (30%). We found the craniofacial phenotype to be mild in the young infant, but progressively more characteristic with age. Autosomal recessive inheritance is suspected on the basis of our brother-and-sister pair. (Am J Dis Child 132:667-671, 1978) References 1. Coffin GS, Siris E: Mental retardation with absent fifth fingernail and terminal phalanx . Am J Dis Child 119:433-439, 1970. 2. Bartsocas CS, Tsiantos AK: Mental retardation with absent fifth fingernail and terminal phalanx . Am J Dis Child 120:493-494, 1970. 3. Weiswasser WH, Hall BD, Delavan GW, et al: Coffin-Siris syndrome: Two new cases . Am J Dis Child 125:838-840, 1973.Crossref 4. Smith DW: Recognizable Patterns of Human Malformation . Philadelphia, WB Saunders Co, 1976. 5. Ptacek LJ, Opitz JM, Smith DW, et al: The Cornelia de Lange syndrome . J Pediatr 63:1000-1020, 1963.Crossref 6. Hanson JW, Smith DW: The fetal hydantoin syndrome . J Pediatr 87:285-290, 1975.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Jul 1, 1978

References