The Coffin-Siris syndrome: five new cases including two siblings
J. C. Carey and B. D. Hall
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.
