Acrocephalosyndactylia (Latest Articles)

Latest indexed articles for 'Acrocephalosyndactylia'

Articles 61 to 70 of 200:

Monobloc distraction in an infant, using the rigid external distractor: problems and solutions--a case report.

12 Jan 2008 INTRODUCTION: Patients with craniofacial dysostosis frequently develop functional problems including raised intracranial pressure, ocular dysfunction, obstructive sleep apnoeas and failure to thrive. These functional problems can be treated by a ...
rec_pub_18248998-monobloc-distraction-infant-using-rigid-external-distractor-problems.htm

Phosphoregulation of Twist1 provides a mechanism of cell fate control.

30 Dec 2007 Basic Helix-loop-Helix (bHLH) factors play a significant role in both development and disease. bHLH factors function as protein dimers where two bHLH factors compose an active transcriptional complex. In various species, the bHLH factor Twist has ...
rec_pub_18855684-phosphoregulation-twist1-provides-mechanism-cell-fate-control.htm

High-grade vesicoureteral reflux in Pfeiffer syndrome.

30 Dec 2007
rec_pub_18825630-high-grade-vesicoureteral-reflux-pfeiffer-syndrome.htm

Successful isotretinoin treatment of acne in a patient with Apert syndrome.

30 Dec 2007
rec_pub_18779907-successful-isotretinoin-treatment-acne-patient-apert-syndrome.htm

Craniosynostosis and congenital tracheal anomalies in an infant with Pfeiffer syndrome carrying the W290C FGFR2 mutation.

30 Dec 2007 Pfeiffer syndrome (OMIM 101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, ocular proptosis and digital malformations. We report on a type II Pfeiffer female infant with craniosynostosis, hydrocephalus, ...
rec_pub_18618990-craniosynostosis-congenital-tracheal-anomalies-infant-pfeiffer.htm

Clinical features of syndromic craniosynostosis.

30 Dec 2007 Disruption of normal suture development and function can result in premature suture fusion, craniosynostosis. This review focuses on syndromic forms of craniosynostosis. More than 100 syndromes in which craniosynostosis is a feature have been ...
rec_pub_18391497-clinical-features-syndromic-craniosynostosis.htm

Genetic obesity syndromes.

30 Dec 2007 There are numerous reports of multi-system genetic disorders with obesity. Many have a characteristic presentation and several, an overlapping phenotype indicating the likelihood of a shared common underlying mechanism or pathway. By understanding ...
rec_pub_18230893-genetic-obesity-syndromes.htm

FGFR mutations and plagiocephaly.

30 Dec 2007 FGFR genes have important effects on bone development, and mutations in 4 "hot spot" exons of FGFR1-3 are found in many patients with craniosynostosis and some with synostotic plagiocephaly. To test the hypothesis that sequence variation in those ...
rec_pub_18216705-fgfr-mutations-plagiocephaly.htm

Papilledema in patients with Apert, Crouzon, and Pfeiffer syndrome: prevalence, efficacy of treatment, and risk factors.

30 Dec 2007 Patients with syndromic craniosynostosis are at risk for elevated intracranial pressure because of various physiologic and anatomic abnormalities. The aims of this study were to determine the prevalence of papilledema in syndromic craniosynostosis, ...
rec_pub_18216676-papilledema-patients-apert-crouzon-pfeiffer-syndrome-prevalence.htm

Relapse following frontofacial advancement using the rigid external distractor.

30 Dec 2007 Multisutural synostosis may result in frontofacial hypoplasia. The aesthetic and function problems arising from this can be corrected by frontofacial advancement, either by monobloc or bipartition osteotomy. Significantly larger, safer advancements ...
rec_pub_18216675-relapse-following-frontofacial-advancement-using-rigid-external.htm

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