title: Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance.
abstract: The association of craniosynostosis with ectopia lentis is extremely rare. This was recently reported in monozygotic twin sisters, supporting a genetic etiology for this syndromic association. We report on female first cousins once removed who were born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and was later found to have ectopia lentis and severe myopia. The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. The inheritance is likely autosomal dominant with variable expression and incomplete penetrance and further defines this syndrome to include congenital heart defects. These findings will have important implications for genetic counseling.
authors.affiliation: The Hospital for Sick Children, Division of Clinical and Metabolic Genetics, Toronto, Ontario, Canada.
authors.forename: Nada L
authors.initials: NL
authors.lastname: Quercia
authors.forename: Ahmad S
authors.initials: AS
authors.lastname: Teebi
mesh_terms: D000293:Adolescent; D000328:Adult; D003398:Craniosynostoses / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D004479:Ectopia Lentis / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D005799:Genes, Dominant; D006330:Heart Defects, Congenital / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D008297:Male; D010375:Pedigree; D019683:Penetrance; D013577:Syndrome