No abstract available.
Acrocephalosyndactylia*

No abstract available.
Acrocephalosyndactylia*

Apert syndrome is a rare acrocephalosyndactyly syndrome characterised by craniosynostosis, midface hypoplasia and syndactyly of the hands and feet. The majority of cases arise as the result of one of two mutations of the fibroblast growth factor receptor 2 gene (FGFR2). Due to the involvement of both the cranial and the facial sutures, the keystone of the craniofacial skeleton, the sphenoid bone, is affected by the disease process and as a result is dysmorphic. This may significantly affect craniofacial morphology but it is recognised that there are marked variations in this between different affected individuals. This is a retrospective study examining the morphology of the sphenoid bone using three dimensional reconstructions of computed tomography (CT) scan data. Shape analysis was performed using generalised Procrustes analysis and principal component analysis (GPA/PCA). Comparisons were made between the individuals with Apert syndrome and a group of normal individuals, and between the two genotypic groups. The sphenoid bone in those with Apert syndrome showed marked differences in morphology compared to the normal individuals with a restriction in height and increased angulation of the lesser wings; however, there were no consistent differences between the two genotypic groups. It is possible that fronto-orbital advancement (FOA) surgery indirectly releases the sphenoid bone and allows compensatory growth in this direction.
Acrocephalosyndactylia

No abstract available.
Acrocephalosyndactylia* ; Hypertelorism* ; Orbit*

Apert syndrome is characterized by a hyperacrobrachycephalic skull with a flattened occiput, and malformations of the midface, hands and feet, as well as complicated multiple craniosynostosis and dysmorphism of the skull. Several authors have recently reported in the treatment of complicated skull anomalies that simple x-ray and axial/coronal CT imaging cannot provide sufficiently precise information, and presurgical planning cannot be based on the findings of these procedures ; three-dimensional(3D) reconstruction of CT images is, instead, needed. By means of a computerized simulation, the authors reformatted skull contour on a monitor using the method of splitting and remodeling a 3D skull image. Surgery was performed and the result was good. Presurgical computerized simulation was thus shown to be very helpful for the surgical correction of complicated craniosynostosis.
Acrocephalosyndactylia ; Craniosynostoses ; Foot ; Hand ; Skull*

Apert syndrome is characterized by a hyperacrobrachycephalic skull with a flattened occiput, and malformations of the midface, hands and feet, as well as complicated multiple craniosynostosis and dysmorphism of the skull. Several authors have recently reported in the treatment of complicated skull anomalies that simple x-ray and axial/coronal CT imaging cannot provide sufficiently precise information, and presurgical planning cannot be based on the findings of these procedures ; three-dimensional(3D) reconstruction of CT images is, instead, needed. By means of a computerized simulation, the authors reformatted skull contour on a monitor using the method of splitting and remodeling a 3D skull image. Surgery was performed and the result was good. Presurgical computerized simulation was thus shown to be very helpful for the surgical correction of complicated craniosynostosis.
Acrocephalosyndactylia ; Craniosynostoses ; Foot ; Hand ; Skull*

Acrocephalosyndactylia ; pathology ; Fetus ; pathology ; Humans

Apert syndrome is a rare disorder characterized by malformation of the skull, (usually oxyce-phaly or acrocephaly), in association with sys temic syndactyly It is due to congenital disturbance in the growth of bone and soft tissue affecting principally the head, the hands and the feet. The original description was presented by Troquart in 1886. Since then, more than 200cases have been reported in the world up to 1970. Recently we have seena patient with typical Apert Syndrome and report it here with a brief eviewr of the relevant literature.
Acrocephalosyndactylia ; Foot ; Hand ; Head ; Humans ; Skull ; Syndactyly

Acrocephalosyndactylia ; diagnosis ; genetics ; therapy ; Female ; Humans ; Infant

Apert syndrome, or acrocephalosyndactyly is a complex of associated malformations, which are craniosynostosis and symmetric complex syndactyly of the hands and feet. The syndrome was first described by Apert in 1906. Review of the worlds literature disclosed about 200 similar cases and 9 Cases in Korea. Authors experienced one case of Apert syndrome and treated surgically for acro-syndactyly and polydactyly of both hands and feet. The case was compared with the other previously reported cases in Korea.
Acrocephalosyndactylia ; Craniosynostoses ; Foot ; Hand ; Korea ; Polydactyly ; Syndactyly