title: Unilateral and bilateral expression of a quantitative trait: asymmetry and symmetry in coronal craniosynostosis.
abstract: Bilateral symmetry in vertebrates is imperfect and mild asymmetries are found in normal growth and development. However, abnormal development is often characterized by strong asymmetries. Coronal craniosynostosis, defined here as consisting of premature suture closure and a characteristic skull shape, is a complex trait. The premature fusion of the coronal suture can occur unilaterally associated with skull asymmetry (anterior plagiocephaly) or bilaterally associated with a symmetric but brachycephalic skull. We investigated the relationship between coronal craniosynostosis and skull bilateral symmetry. Three-dimensional landmark coordinates were recorded on preoperative computed tomography images of children diagnosed with coronal nonsyndromic craniosynostosis (N = 40) and that of unaffected individuals (N = 20) and analyzed by geometric morphometrics. Our results showed that the fusion pattern of the coronal suture is similar across individuals and types of coronal craniosynostosis. Shape analysis showed that skulls of bilateral coronal craniosynostosis (BCS) and unaffected individuals display low degrees of asymmetry, whereas right and left unilateral coronal craniosynostosis (UCS) skulls are asymmetric and mirror images of one another. When premature fusion of the coronal suture (without taking into account cranial dysmorphology) is scored as a qualitative trait, the expected relationship between trait frequency and trait unilateral expression (i.e. negative correlation) is confirmed. Overall, we interpret our results as evidence that the same biological processes operate on the two sides in BCS skulls and on the affected side in UCS skulls, and that coronal craniosynostosis is a quantitative trait exhibiting a phenotypic continuum with BCS displaying more intense shape changes than UCS.
authors.affiliation: Department of Anthropology, Pennsylvania State University, University Park, Pennsylvania, USA.
authors.forename: Yann
authors.initials: Y
authors.lastname: Heuzé
authors.forename: Neus
authors.initials: N
authors.lastname: Martínez-Abadías
authors.forename: Jennifer M
authors.initials: JM
authors.lastname: Stella
authors.forename: Craig W
authors.initials: CW
authors.lastname: Senders
authors.forename: Simeon A
authors.initials: SA
authors.lastname: Boyadjiev
authors.forename: Lun-Jou
authors.initials: LJ
authors.lastname: Lo
authors.forename: Joan T
authors.initials: JT
authors.lastname: Richtsmeier
mesh_terms: D002648:Child; D003398:Craniosynostoses / Q000000981:diagnostic imaging* / Q000473:pathology; D005260:Female; D006801:Humans; D008297:Male; D012886:Skull / Q000000981:diagnostic imaging / Q000473:pathology; D014057:Tomography, X-Ray Computed