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synostosi

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Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/000320748
EISBN: 978-3-8055-9595-7
... it had been classified as hereditary isolated coronal synostosis until associated abnormalities of the inner ear and the brain, as well as subtle anomalies of the extremities, were appreciated [ 2 , 3 ]. Likewise, a considerable proportion of individuals with a putative isolated metopic synostosis...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/000318408
EISBN: 978-3-8055-9595-7
... fusion results in characteristic skull changes that vary with the affected suture, and imaging studies may confirm suspected synostosis. Craniectomy is the definitive treatment for craniosynostosis, and a single well-timed surgical procedure is sufficient in many patients with isolated synostosis...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/000318391
EISBN: 978-3-8055-9595-7
... Abstract Saethre-Chotzen syndrome (SCS) is one of the frequent autosomal dominant craniosynostosis syndromes with the following main features: coronal suture fusion resulting in progressive synostosis, dilated parietal foramina, low frontal hairline, hypertelorism, ptosis of upper eyelids...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
EISBN: 978-3-8055-9595-7
... der Molen AB: Is isolated sagittal synostosis an isolated condition?. J Craniofac Surg 2009;20:399-401 21. Seto ML, Hing AV, Chang J, Hu M, Kapp-Simon KA, et al: Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Am J Med Genet A 2007;143:678-686 22. Zeiger JS...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/000318843
EISBN: 978-3-8055-9595-7
... with Pfeiffer syndrome [ 5 ]. The closure of the sutures leads to typical partial sonographic shadowing of the brain. When cloverleaf skull is present, major parts of the brain are not visible in axial standard views due to synostosis of all sutures except the metopic and squamosal sutures ( fig. 6d...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/000318410
EISBN: 978-3-8055-9595-7
... recurrent deformity and/ or elevated intracranial pressure may occur in a significant proportion of patients, particularly in progressive multisutural synostosis commonly seen in patients with syndromic craniosynostosis. Technical Aids of Examination Following comprehensive clinical evaluation...
Book Chapter
Series: Monographs in Human Genetics
Volume: 21
Published: 11 September 2017
10.1159/000477276
EISBN: 978-3-318-06098-0
... , and MSH5 . The most common single nuclear causative gene in syndromic POF is a premutation of FMR1 , but other examples of proven syndromic POF include the blepharophimosis-ptosis-epicanthus inversus syndrome due to FOXL2 , and proximal symphalangism ( SYM1 ) and multiple synostosis syndrome ( SYNS1...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
EISBN: 978-3-8055-9595-7
...) defines a new craniosynostosis syndrome. Am J Hum Genet 1997;60:555-564 6. Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, et al: Identification of a genetic cause for isolated unilateral coronal synostosis: a unique mutation in the fibroblast growth factor receptor 3. J Pediatr...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/000318427
EISBN: 978-3-8055-9595-7
... Abstract Craniofrontonasal syndrome (CFNS) is a multiple congenital anomaly syndrome mainly characterized by hypertelorism, a broad or bifid nasal tip, coronal suture synostosis, corpus callosum hypoplasia or agenesis, and developmental delay but without severe mental deficiency. In some...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/000319987
EISBN: 978-3-8055-9595-7
... of synostosis involved and their contribution to the characterization of the etiology of the craniosynostosis. The use of chromosomal abnormalities in the identification of causative loci and genes in craniosynostosis and suture development has not been straightforward, particularly due to the small number...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/000318428
EISBN: 978-3-8055-9595-7
... to identify the underlying genetic alteration, which since then has been successfully adopted by our group as well as others. Brachycephaly and Anterior Plagiocephaly Resulting from Predominant Coronal Craniosynostosis The common ‘syndromic’ forms of uni- or bilateral coronal synostosis show autosomal...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/000318407
EISBN: 978-3-8055-9595-7
... striking case report, though the connection between the defining mutation and metopic synostosis in this case is not clear), very mild midface hypoplasia, hypertelorism, ptosis, and a high palate [ 5 , 10 , 19 ] ( fig. 1 ). Turricephaly, a depressed nasal bridge, and temporal bulging may be especially...
Book
Book Cover Image
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/isbn.978-3-8055-9595-7
EISBN: 978-3-8055-9595-7
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
EISBN: 978-3-8055-9595-7
...References References 1. Kane AA, Mitchell LE, Craven KP, Marsh JL: Observations on a recent increase in plagiocephaly without synostosis. Pediatrics 1996;97:877-885 2. Rogers GF, Oh AK, Mulliken JB: The role of congenital muscular torticollis in the development of deformational...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
EISBN: 978-3-8055-9595-7
... multiple suture craniosynostosis. Neurosurgery 1990;26:442-448 25. Arnaud E, Capon-Degardin N, Michienzi J, DiRocco F, Renier D: Scaphocephaly part II: secondary coronal synostosis after scaphocephalic surgical correction. J Craniofac Surg 2009;20:(suppl 2)1843-1850 26. Collmann H, Sörensen N...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/000318841
EISBN: 978-3-8055-9595-7
.... This was first suggested by Merrill et al. when they observed abnormal mixing of sutural mesenchyme cells with the osteogenic fronts in Twist1 +/- mice, which develop coronal synostosis [ 15 ]. This cell mixing was demonstrated using the Wnt1-Cre;R26R transgenes on the Twist1 +/- background. Because...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
EISBN: 978-3-8055-9595-7
... synostosis: a novel association. Prenat Diagn 2006;26:258-261 ...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
EISBN: 978-3-8055-9595-7
... Boogaard M: Autosomal dominant craniosynostosis of the sutura metopica. Clin Genet 1990;38:374-377 9. Tartaglia M, Bordoni V, Velardi F, Basile R, Saulle E, et al: Fibroblast growth factor receptor mutational screening in newborns affected to metopic synostosis. Child's Nerv Syst 1999;15:389-394 10...
Book Chapter
Series: Monographs in Human Genetics
Volume: 19
Published: 07 March 2011
10.1159/000321705
EISBN: 978-3-8055-9595-7
.... AP, oblique, and lateral views with simulated reconstruction using 3-D CT scan imaging confirming metopic craniosynostosis in patient 1. Initially viewing the metopic synostosis and extremity findings as 2 separate entities, laboratory testing included a high resolution karyotype and analyses...
Book
Book Cover Image
Series: Frontiers of Oral Biology
Volume: 12
Published: 04 February 2008
10.1159/isbn.978-3-8055-8152-3
EISBN: 978-3-8055-8152-3