 |
Acrocephalosyndactylia (Latest Articles)
Latest indexed articles for 'Acrocephalosyndactylia'
Articles 101 to 110 of 200:
30 Dec 2006 
We report a rare case of visual improvement in a 19-year-old patient with Apert syndrome after segmental distraction with a rigid external distraction device. We used the Rigid External Distraction Device II System (R.E.D. II, KLS Martin) after Le ...
rec_pub_17886129-improvement-vision-combined-midfacial-maxillary-distraction-rigid.htm
Morphology and growth of the mandible in Crouzon, Apert, and Pfeiffer syndromes.
30 Dec 2006 The purpose of this study was to examine mandibular morphology and growth in patients with Crouzon, Pfeiffer, and Apert syndromes using posteroanterior cephalograms. Fifteen patients with Apert (n = 2), Crouzon (n = 11), and Pfeiffer (n = 2) (11 ...
rec_pub_17251854-morphology-growth-mandible-crouzon-apert-pfeiffer-syndromes.htm
Sinus pericranii associated with craniosynostosis.
30 Dec 2006 Sinus pericranii is a vascular tumor of the head having communication with the dural venous system. The tumor enlarges with increased intracranial pressure when the patient is in the lateral recumbent position. Since Stromeyer used the term "sinus ...
rec_pub_17251841-sinus-pericranii-associated-craniosynostosis.htm
Differential effects of FGFR2 mutation in ophthalmic findings in Apert syndrome.
30 Dec 2006 Apert syndrome is mostly caused by one of the two specific point mutations in the fibroblast growth factor receptor 2 (FGFR2). The objective of this study was to determine whether there were any differences in the prevalence of ophthalmic features ...
rec_pub_17251833-differential-effects-fgfr2-mutation-ophthalmic-findings-apert-syndrome.htm
29 Nov 2006 BACKGROUND/PURPOSE: Apert syndrome, a disorder of craniosynostosis, syndactyly, and other craniofacial malformations, is caused by point mutations (Ser252Trp or Pro253Arg) in the fibroblast growth factor receptor 2 gene. This study's goal was to ...
rec_pub_17189145-ocular-abnormalities-apert-syndrome-genotype-phenotype-correlations.htm
30 Oct 2006 Le Fort III midfacial distraction using internal and external devices is a well-accepted procedure for the midfacial retrusion of craniosynostosis syndrome patients. The authors described 20 consecutive series of Le Fort III midfacial distraction ...
rec_pub_17119404-le-fort-iii-midfacial-distraction-using-internal-distraction-device.htm
30 Oct 2006 Apert syndrome or acrocephalosyndactyly is a rare autosomal dominant malformation syndrome characterized by craniosynostosis, symmetric severe syndactyly, and a variety of abnormalities of the skin, skeleton, brain, and visceral organs. A case of ...
rec_pub_17076721-apert-syndrome.htm
Genetic investigations of Saethre-Chotzen syndrome presenting with renal cell carcinoma.
30 Oct 2006 Saethre-Chotzen syndrome (SCS) is a craniosynostosis syndrome characterized by facial and limb abnormalities caused by mutations in the TWIST1 gene on 7p21, resulting in variable loss of function. The transcription factor TWIST1 has also been shown ...
rec_pub_17074596-genetic-investigations-saethre-chotzen-syndrome-presenting-renal-cell.htm
30 Oct 2006 
rec_pub_17060439-the-use-2-3-dimensional-sonographic-scans-evaluation-cranial-sutures.htm
13 Oct 2006
rec_pub_16969861-early-onset-low-grade-papillary-carcinoma-bladder-associated-apert.htm
Results: [1-10] [11-20] [21-30] [31-40] [41-50] [51-60] [61-70] [71-80] [81-90] [91-100] [101-110] [111-120] [121-130] [131-140] [141-150] [151-160] [161-170] [171-180] [181-190] [191-200]