Acrocephalosyndactylia (Latest Articles)

Latest indexed articles for 'Acrocephalosyndactylia'

Articles 131 to 140 of 200:

Tracheal cartilaginous sleeve with cricoid cartilage involvement in Pfeiffer syndrome.

27 Feb 2006 Pfeiffer syndrome is one of a group of craniosynostosis syndromes in which rare tracheal anomalies have been described. This group of patients have a poor prognosis, and mortality can be related to airway complications and respiratory distress. We ...
rec_pub_16633174-tracheal-cartilaginous-sleeve-cricoid-cartilage-involvement-pfeiffer.htm

Clinical and radiographic presentation and preparation of the prototyping model for pre-surgical planning in Apert's syndrome.

27 Feb 2006 Acrocephalosyndactyly, or Apert's syndrome, described nearly a century ago, is a craniofacial dysostosis, an autosomal dominant condition characterized by severe development disturbances of the craniofacial region including bilateral coronal ...
rec_pub_16549440-clinical-radiographic-presentation-preparation-prototyping-model-pre.htm

Q289P mutation in FGFR2 gene causes Saethre-Chotzen syndrome: some considerations about familial heterogeneity.

27 Feb 2006 OBJECTIVE: To describe the first report on a three-generation family presenting typical features of Saethre-Chotzen syndrome, in which the Q289P mutation in the FGFR2 gene was detected. DESIGN: Dysmorphological evaluation was performed by a clinical ...
rec_pub_16526917-q289p-mutation-fgfr2-gene-causes-saethre-chotzen-syndrome.htm

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome.

27 Feb 2006 Crouzon Syndrome (CS), Pfeiffer syndrome (PS) and the phenotypically related Jackson-Weiss (JW) variant are three craniosynostotic conditions caused by heterozygous mutations in Fibroblast Growth Factor Receptor (FGFR) genes. Screening a large ...
rec_pub_16418739-mutation-screening-patients-syndromic-craniosynostoses-indicates.htm

Ophthalmic findings in Apert's syndrome after craniofacial surgery: twenty-nine years' experience.

30 Jan 2006 PURPOSE: To survey the spectrum of ophthalmic morbidity in Apert's syndrome after craniofacial surgery. DESIGN: A retrospective study of patients with Apert's syndrome managed at the Australian Craniofacial Unit from 1975 to 2004. PARTICIPANTS: ...
rec_pub_16458095-ophthalmic-findings-apert-s-syndrome-craniofacial-surgery-twenty-nine.htm

Oral health status of children with syndromic craniosynostosis.

30 Dec 2005 OBJECTIVE: To gain more information on the oral health status of subjects with syndromic craniosynostosis. DESIGN: A cross-sectional study. MATERIALS AND METHODS: The present study took place at the Hospital for Rehabilitation of Craniofacial ...
rec_pub_16961025-oral-health-status-children-syndromic-craniosynostosis.htm

Usefulness of magnetic resonance imaging for accurate diagnosis of Pfeiffer syndrome type II in utero.

30 Dec 2005 OBJECTIVE: To present the usefulness of fetal magnetic resonance (MR) imaging for accurate diagnosis of Pfeiffer syndrome type II. CASE AND METHODS: A 19-year-old woman was referred to us at 29 weeks of gestation for prenatal management of ...
rec_pub_16490997-usefulness-magnetic-resonance-imaging-accurate-diagnosis-pfeiffer.htm

Delayed degradation in a resorbable plating system.

30 Dec 2005 Resorbable plating systems are used extensively for craniofacial reconstruction, particularly in children. The systems provide rigid fixation while potentially minimizing the long-term drawbacks of permanent plating systems such as plate ...
rec_pub_16432435-delayed-degradation-resorbable-plating-system.htm

Do Craniosynostosis syndrome phenotypes with both FGFR2 and TWIST mutations have a worse clinical outcome?

30 Dec 2005 We present three cases with both FGFR2 mutations and novel TWIST sequence variants. The clinical outcome in this cohort is compared with that in individuals with a single ...
rec_pub_16432427-do-craniosynostosis-syndrome-phenotypes-fgfr2-twist-mutations-worse.htm

Subcranial facial bipartition osteotomy with glabellar reverse V-shaped and temporal approaches instead of the bicoronal approach.

30 Dec 2005 Patients with Apert syndrome show hypertelorism and midfacial hypoplasia, and their features are significantly improved through facial bipartition surgery. In addition, because patients with Apert syndrome demonstrate cranial deformity as well as ...
rec_pub_16432423-subcranial-facial-bipartition-osteotomy-glabellar-reverse-v-shaped.htm

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