title: 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.
mesh_terms: D000293:Adolescent; D002675:Child, Preschool; D005145:Face; D005260:Female; D006197:Hair; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics; D008046:Lip; D008297:Male; D009264:Nails, Malformed; D012871:Skin Diseases / Q000150:complications; D013577:Syndrome