The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre–Chotzen syndrome and Muenke-type mutation

Trusen, Andreas; Beissert, Matthias; Collmann, H.; Darge, Kassa

doi:10.1007/s00247-002-0823-3

Cited by 37 publications

(24 citation statements)

References 4 publications

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“…42 In addition, patients can have partial syndactyly of the fingers, most commonly between the web space of the index finger and long finger (Level of Evidence: Diagnostic, V). 43 A delta or duplicated distal phalanx of the hallux can be seen as well.…”

Section: Saethre-chotzen Syndromementioning

confidence: 97%

Craniofacial Syndromes

Buchanan

Xue

Hollier

2014

Plastic and Reconstructive Surgery

166

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Craniofacial syndromes fall into two major categories-those associated with craniosynostosis, and those associated with clefts. Each has a different set of potential complications requiring a unique approach for surgical management. Craniosynostosis is a congenital disorder in which one or more of the cranial sutures fuses prematurely. The most common syndromes associated with this condition include Crouzon, Apert, Pfeiffer, Muenke, and Saethre-Chotzen syndromes. Surgical management of these children requires a multidisciplinary approach and close involvement of the family. Operations must take into consideration the growing potential of the bony structures. Common syndromes associated with clefts include Pierre Robin, Treacher Collins, Nager, Binder, and Stickler syndromes. Many of these children have severe airway issues requiring immediate address before operative reconstruction. As with syndromes associated with craniosynostosis, the key to management is a multidisciplinary approach focused on the right timing. The purpose of this article is to review the clinical presentation, care, and treatment of these patients.

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Section: Saethre-chotzen Syndromementioning

confidence: 97%

Craniofacial Syndromes

Buchanan

Xue

Hollier

2014

Plastic and Reconstructive Surgery

166

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“…[1][2][3][4][5] Deviations of the cervical column morphology have also been observed in Saethre-Chotzen, Klippel-Feil, Turner and Down syndromes. [6][7][8][9][10][11] Malformations of the upper cervical vertebrae have been closely investigated in patients with cleft lip and/or palate. [11][12][13][14][15][16][17] Deviations in the morphology of the cervical vertebral column have been described in healthy subjects with neutral occlusion 18 and in patients with severe skeletal malocclusion traits, such as deep bite, open bite, maxillary overjet and mandibular overjet.…”

Section: Introductionmentioning

confidence: 99%

Cervical vertebral column morphology in patients with obstructive sleep apnoea assessed using lateral cephalograms and cone beam CT. A comparative study

Sonnesen

Jensen²,

Ar³

et al. 2013

Dentomaxillofacial Radiology

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Prevalence and pattern in the cervical column morphology have now been confirmed on CBCT. The occurrence of morphological deviations in the cervical vertebral column showed good agreement between lateral cephalograms and CBCT images. This indicates that 2D lateral cephalograms (already available after indication in connection with, e.g. treatment planning) are sufficient for identifying morphological deviations in the cervical vertebral column. For a more accurate diagnosis and location of the deviations, CBCT is required. New 3D methods will suggest a need for new detailed characterization and division of deviations in cervical vertebral column morphology.

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“…22 The phenotypic diagnosis of Muenke's syndrome was based on the following features: uni-or bilateral coronal synostosis, brachydactyly, mental retardation, and sensorineural hearing deficit. 16,19 Clinical examination Examination by at least one of the authors (WK, CS, GL, BP, HC) was supplemented by repeated photographic documentation.…”

Section: Methods Of Investigationmentioning

confidence: 99%

Saethre–Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome

et al. 2005

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The pattern of skeletal anomalies in the cervical spine, hands and feet in patients with Saethre–Chotzen syndrome and Muenke-type mutation

Abstract: Pathognomonic signs for SCS are the triangular shape of the epiphysis and duplicated distal phalanx of the hallux. Calcaneo-cuboid fusion was detected in MTM only. These signs may be helpful in the differentiation of SCS from MTM.

Cited by 37 publications

References 4 publications

Craniofacial Syndromes

Craniofacial Syndromes

Cervical vertebral column morphology in patients with obstructive sleep apnoea assessed using lateral cephalograms and cone beam CT. A comparative study

Saethre–Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome

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