Genetic perspectives on craniosynostosis and syndromes with craniosynostosis.
Thirty-seven syndromes in which craniosynostosis is a feature are presented in tabular form, allowing the clinician to rapidly identify a given syndrome and gain immediate access to the pertinent literature. A plea is made to delineate unknown genesis syndromes with craniosynostosis as rapidly as possible. As an unknown genesis syndrome becomes delineated, its phenotypic spectru, its natural history, and its inheritance pattern or risk of recurrence become known, allowing for better patient care and family counseling.
D003398:Craniosynostoses / Q000145:classification / Q000150:complications / Q000235:genetics*; D006801:Humans; D013577:Syndrome