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Smith DW Hanson JW (1975)
The fetal hydantoin syndromeJ Pediatr, 87
D. Smith (1976)
Recognizable patterns of human malformation.Major problems in clinical pediatrics, 7
Opitz JM Ptacek LJ (1963)
The Cornelia de Lange syndromeJ Pediatr, 63
G. Coffin, E. Siris (1970)
Mental retardation with absent fifth fingernail and terminal phalanx.American journal of diseases of children, 119 5
J. Hanson, David Smith (1975)
Fetal hydantoin syndrome.Lancet, 1 7961
B. Hall, D. Smith, F. Fraser, H. Pashayan, E. Levy (1963)
The Cornelia de Lange syndrome.Pediatrics, 47 6
Hall BD Weiswasser WH (1973)
Coffin-Siris syndrome: Two new casesAm J Dis Child, 125
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
American Journal of Diseases of Children – American Medical Association
Published: Jul 1, 1978
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