Apert syndrome
Apert syndrome
... Apert syndrome has distinctive clinical features. The coronal suture fuses prematurely (at less than 3 months), leading to an acrocephalic (cone-shaped) head with shortened antero-posterior diameter, and a ...
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Molecular analysis of exon 7 of the fibroblast growth factor receptor 2 (FGFR2) gene in an Indonesian patient with Apert syndrome: a case report
... of Apert syndrome was previously made based on these clinical ...suspected Apert syndrome with a cut-off point of ...with Apert syndrome with a ...
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A 37 year old Nigerian woman with Apert syndrome – medical and psychosocial perspectives: a case report
... Case presentation: Our patient is a 37-year-old African woman. She had abnormal characteristics of the skull, face, and extremities that were detected at birth. She is clinically stable but moderately depressed as an ...
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The spectrum of Apert syndrome: phenotype, particularities in orthodontic treatment, and characteristics of orthognathic surgery
... with Apert syndrome, and who sought consultation or treatment at the Departments of Orthodontics or Craniomaxillofacial Surgery at the Dental School of the University Hospital of Münster (n = 22; 9 male, 13 ...
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Abnormalities in cartilage and bone development in the Apert syndrome FGFR2+/S252W mouse
... Mice created by conditional inactivation of Fgfr2 with Dermo1 cre/+ , specifically targeting Cre expression to disrupt signaling in the chondrocyte or osteocyte lineages, gave further insight into the potential mechanism ...
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Aberrant growth of the anterior cranial base relevant to severe midface hypoplasia of Apert syndrome
... of Apert syndrome characteristically exhibited the severe growth retardation of nasal organ car- tilage in the observation of all the radiograms, which re- sulted in the hypoplasia of nasal cavity ...
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Increased calvaria cell differentiation and bone matrix formation induced by fibroblast growth factor receptor 2 mutations in Apert syndrome
... Apert syndrome, associated with fibroblast growth factor receptor (FGFR) 2 mutations, is characterized by premature fusion of cranial ...from Apert infants and fetuses with FGFR-2 ...in Apert ...
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Deformed Skull Morphology Is Caused by the Combined Effects of the Maldevelopment of Calvarias, Cranial Base and Brain in FGFR2-P253R Mice Mimicking Human Apert Syndrome
... individuals[4]. Apert syndrome (AS), a genetic craniosynostosis, is caused by one of two missense mutations in adjacent amino acids, Ser252Trp(S252W) and Pro253Arg(P253R), of fibroblast growth factor ...
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Apert Syndrome- A Case Report With Review
... Treatment plan was Patient was advised to quit gutkha chewing habit. Intralesional injections including hyaluronidase, dexamethasone and placentrix to be given. As for apert syndrome there is no cure. ...
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Apert Syndrome: A Case Report and Review of Literature
... of Apert syndrome lest we forget, involve the formation of a strong multidisciplinary team com- prising of neonatologists, neurosurgeons, craniofacial surgeons, plastic surgeons, otolaryngologists, ...
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Drug export activity of the human canalicular multispecific organic anion transporter in polarized kidney MDCK cells expressing cMOAT (MRP2) cDNA
... Apert syndrome, associated with fibroblast growth factor receptor (FGFR) 2 mutations, is characterized by prema- ture fusion of cranial ...from Apert in- fants and fetuses with FGFR-2 ...in ...
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Midface and upper airway dysgenesis in FGFR2 related craniosynostosis involves multiple tissue specific and cell cycle effects
... the Apert mice are primarily driven by mutant FGFR2 ...of Apert mutant FGFR2 remains ligand-dependent (Yu et ...and Apert mutations are predicted to increase the binding affinity of FGFR2 for FGF2, ...
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Fibroblast Growth Factor Receptor 2 (FGFR2) Mutation Related Syndromic Craniosynostosis
... with Apert syndrome suggests that the overall number of major craniofacial procedures within the first 5 years of life is decreased following early posterior cranial vault distraction ...
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The Greig cephalopolysyndactyly syndrome
... The primary clinical triad of GCPS is polysyndactyly, mac- rocephaly, and hypertelorism [2-4] (Figure 1). The poly- dactyly is classically described as preaxial, and may occur in any limb. Postaxial polydactyly may be ...
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Apert p.Ser252Trp Mutation in FGFR2 Alters Osteogenic Potential and Gene Expression of Cranial Periosteal Cells
... Apert syndrome (AS), a severe form of craniosynostosis, is caused by dominant gain-of-function mutations in FGFR2. Because the periosteum contribution to AS cranial pathophysiology is unknown, we tested the ...
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Psychosocial perspectives in the treatment of pediatric chronic pain
... fibromyalgia syndrome (JFMS), chronic fatigue syndrome (CFS), widespread pain syndrome (WPS), chronic pelvic pain, irritable bowel syndrome (IBS), recurrent abdominal pain (RAP), tension ...
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Comorbidity of the Metabolic Syndrome: Hyperuricemia, Gallstone Disease, Hormonal Disorders
... metabolic syndrome and gallstone disease, hyperuricemia, hormonal disorders and point out the most relevant picture for ...metabolic syndrome and hyperuricemia is revealed and ...metabolic syndrome. ...
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Massive Idiopathic Pneumoperitoneum in Children: A Case Report
... response syndrome, respiratory dis- tress syndrome, bilateral pulmonary condensation syndrome, the volume of the abdomen is normal and depressible as a whole, but sensitive in the right hypo- ...
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Genetic Factors in Selected Complex Congenital Malformations with Cleft Defect
... In some cases, however, no signs of gene muta- tions are found to be associated with TCOF1, which raises suspicions of the existence of pathologies in other genes that lead to the formation of this syn- drome. This was ...
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Simpson-Golabi-Behmel syndrome types I and II
... Main tumors to be screened are: 1) Wilms and liver tumors: Abdominal ultrasound examination every three and four months from birth until at least age seven and yearly there after [32,54]. Abdominal ultrasound examin- ...
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