Craniofacial morphology in young patients With Turner syndrome

Abstract

The craniofacial morphology of 33 Turner syndrome patients, aged 7-16.7 years, was evaluated by standard cephalometric methods. The sample was subdivided according to karyotype and 72 normal girls aged 7.1-16.1 years served as controls. The size of the calvarium and face was generally smaller in the Turner group than in the controls. The morphology was characterized by a flattened cranial base angle, a marked reduction in posterior cranial base length, facial retrognathism and short and posteriorly rotated jaws. The same morphological pattern was found in all the karyotypes, but the deviations were most pronounced in monosomy X (45X) patients. The results indicate that a deviating pattern of craniofacial size and morphology has already been established in childhood. It is suggested that the deviations originate in the fetal period, when the primary cartilages form the craniofacial skeleton.

The Role of Ellis‐Van Creveld 2(EVC2) in Mice During Cranial Bone Development

“…Previous studies demonstrated that a shortening of the cranial base during development leads to a number of mid‐facial abnormalities. For example, the retrognathic facial profile characteristic of Cretinism, Turner syndrome, and Down's syndrome is due to reduced cranial base length (Israel et al, ; Jensen, ; Rongen‐Westerlaken et al, ; Midtbo et al, ; Andersen et al, ; Quintanilla et al, ). Similar trends are also identified in Klinefelter syndrome and Williams's syndrome (Mass and Belostoky, ; Brkic et al, ).…”

Orthopedic‐orthodontic treatment of the patient with Turner's syndrome: Review of the literature and case report

“…Midtbø et al indicated that a deviating pattern of craniofacial size and morphology originates in the fetal period when the primary cartilages form the craniofacial skeleton and already exists since childhood …”

Karyotyping, dermatoglyphic, and sweat pore analysis of five families affected with ectodermal dysplasia

“…They concluded that the mosaic and isochrome for long arm of chromosome showed the same pattern of malocclusion with varying degrees. [8] Similar study by Cockanye postulated on X-linked recessive gene in families where males alone were affected and a typical phenotype of the disease was found. [12] Thus we studied structural aberrations of the X-chromosome using karyotyping.…”

“…Various authors have studied karyotyping in patients with Turner's syndrome,[8] Cri-du-chat syndrome[9] and found changes at chromosomal level. As ED is also a hereditary condition with abnormality in the human genome, karyotyping can be used to locate the abnormal chromosome.…”