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Acrocephalosyndactylia (Latest Articles)
Latest indexed articles for 'Acrocephalosyndactylia'
Articles 51 to 60 of 200:
[Experience of midfacial distraction osteogenesis in upper airway stenosis]
13 Apr 2008 
OBJECTIVE: To investigate the therapeutic effects of upper airway stenosis after Le Fort III osteotomy and midfacial distraction osteogenesis (DO). METHODS: Eleven cases (age, 5-16 yrs) with severe midface dysostosis complicated with exophthalmos, ...
rec_pub_18844050-experience-midfacial-distraction-osteogenesis-upper-airway-stenosis.htm
Monoblock craniofacial internal distraction in a child with Pfeiffer syndrome: a case report.
30 Mar 2008 
A 7-yr-old boy visited our surgical center with Pfeiffer syndrome type 1, presenting with macrocrania, broad big toe and thumb, exophthalmos, tongue protrusion, malocclusion with midfacial retrusion, mild respiratory difficulty due to minor upper ...
rec_pub_18437024-monoblock-craniofacial-internal-distraction-child-pfeiffer-syndrome.htm
Greig syndrome based on a de novo translocation.
30 Mar 2008 
rec_pub_18353071-greig-syndrome-based-novo-translocation.htm
28 Feb 2008 The aim was to assess the stability of monobloc distraction osteogenesis using three-dimensional computed tomographic (CT) scan volume-rendered images with the "biporion-dorsum sellae" plane. This was a prospective study of patients undergoing ...
rec_pub_18362713-a-novel-method-measuring-monitoring-monobloc-distraction-osteogenesis.htm
Physical and oral characteristics of Crouzon syndrome, Apert syndrome, and Pierre Robin sequence.
28 Feb 2008
rec_pub_18348368-physical-oral-characteristics-crouzon-syndrome-apert-syndrome-pierre.htm
Craniofacial dysmorphology of Carpenter syndrome: lessons from three affected siblings.
28 Feb 2008 BACKGROUND: Carpenter syndrome, or acrocephalopolysyndactyly type II, is a disorder associated with an autosomal recessive pattern of inheritance. Because of its rarity, limited insight into the anomalies associated with this syndrome exist and ...
rec_pub_18317146-craniofacial-dysmorphology-carpenter-syndrome-lessons-three-affected.htm
Ovarian dysgerminoma and Apert syndrome.
28 Feb 2008 Apert syndrome is an autosomal dominant disorder that results from gain-of-function mutations in the FGFR2 gene. FGFR2 also has been shown to be amplified in stomach and breast cancers. We report the case of a 13-year-old female with Apert syndrome ...
rec_pub_17243131-ovarian-dysgerminoma-apert-syndrome.htm
27 Feb 2008 Apert syndrome is caused by mutations in fibroblast growth factor receptor 2 (Fgfr2) and is characterized by craniosynostosis and other skeletal abnormalities. The Apert syndrome Fgfr2+/S252W mouse model exhibits perinatal lethality. A 3D hydrogel ...
rec_pub_18407821-the-study-abnormal-bone-development-apert-syndrome-fgfr2-s252w-mouse.htm
29 Jan 2008 Apert syndrome is one of the most severe craniosynostosis that is mainly caused by either a Ser252Trp(S252W) or Pro253Arg(P253R) mutation in fibroblast growth factor receptor 2 (FGFR2). As an autosomal dominant disorder, Apert syndrome is mainly ...
rec_pub_18242159-a-pro253arg-mutation-fibroblast-growth-factor-receptor-2-fgfr2-causes.htm
Case report: multiple fractures in a patient with mutations of TWIST1 and TNSALP.
23 Jan 2008 Hypophosphatasia is a rare inherited disorder characterized by defective skeletal mineralization and low alkaline phosphatase activities in the serum. The genetic cause of hypophosphatasia is believed related to inactivating mutations in the TNSALP ...
rec_pub_18219546-case-report-multiple-fractures-patient-mutations-twist1-tnsalp.htm
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