title: The relationship of distinct craniofacial features between Turner syndrome females and their parents.
abstract: The present study aimed to assess the relationship of craniofacial features between females with Turner syndrome (TS) and their parents. Lateral cephalograms of 63 TS females and 80 family members with normal karyotype were analysed using 13 linear and eight angular cephalometric measurements. The statistical differences of the measurements between adult TS females and their mothers (n = 41) and between adult TS females and their adult sisters (n = 27) were calculated to define the distinct craniofacial features of subjects with TS. Regression models were computed to assess the association of distinct craniofacial features between TS females and their parents (n = 41 for mothers and n = 12 for fathers). Distinct craniofacial features of the subjects with TS were an increased cranial base flexion, shortened posterior cranial base length (S-Ba), retrognathic maxilla and mandible (<SNB), shortened distance of the palate, glenoid fossa (S-Art) and gonion (S-Go) from sella, shortened body and total length (Art-Pog) of the mandible and increased vertical angles of the facial skeleton. The mothers' S-Ba (P = 0.001), <SNB (P < 0.001), S-Go (P < 0.01) and S-Art (P < 0.05) measurements predicted well the corresponding measurements of their daughters with TS. Fathers had a significant association with their TS daughters in Art-Pog (P < 0.01) measurement. The results suggest that maternal influences contribute to the growth of a distinct cranial base and to the magnitude of mandibular retrognathism of subjects with TS.
authors.affiliation: Department of Oral Development and Orthodontics, Institute of Dentistry, University of Oulu, Finland. marja.riita.perkiomaki@oulu.fi
authors.forename: Marja R
authors.initials: MR
authors.lastname: Perkiömäki
authors.forename: Stephanos
authors.initials: S
authors.lastname: Kyrkanides
authors.forename: Ahti
authors.initials: A
authors.lastname: Niinimaa
authors.forename: Lassi
authors.initials: L
authors.lastname: Alvesalo
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002508:Cephalometry / Q000706:statistics & numerical data; D002648:Child; D002680:Chin / Q000473:pathology; D005147:Facial Bones / Q000473:pathology*; D005220:Fathers; D005260:Female; D006801:Humans; D007621:Karyotyping; D008297:Male; D008334:Mandible / Q000473:pathology; D008875:Middle Aged; D009035:Mothers; D010159:Palate / Q000473:pathology; D010290:Parents; D063173:Retrognathia / Q000473:pathology; D035781:Siblings; D012886:Skull / Q000473:pathology*; D019291:Skull Base / Q000473:pathology; D013701:Temporal Bone / Q000473:pathology; D014424:Turner Syndrome / Q000235:genetics / Q000473:pathology*