Craniosynostosis
Mostrando 13-24 de 62 artigos, teses e dissertações.
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13. "Condições bucais de pacientes com craniossinostoses múltiplas sindrômicas e síndrome de Treacher Collins." / "Oral health status of patients with syndromic craniosynostosis and Treacher Collins syndrome."
Two groups of patients were evaluated in an attempt to achieve more information on the oral health status, association with cleft lip and palate, soft tissue alterations and prevalence of dental anomalies in patients with craniofacial syndromes. One group comprised 19 patients with craniosynostosis syndromes (Apert, Crouzon, Pfeiffer and Saethre-Chotzen synd
Publicado em: 2004
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14. Estudo clinico e sequenciamento direto do gene Twist em individuos com sinais sugestivos da sindrome de Saethre-Chotzen
Saethre-Chotzensyndrome(acrocephalosyndactyly type 111)is an autosomal dominant craniosynostosis condition, with high penetrance and variable expressivity. Mutations in the Fgfr1-Fgfr3 and Twist genes are known to cause craniosynostosis, the former by constitutive activation and the latter by haploinsufficiency. The Twist gene maps to 7p21 and mutations in t
Publicado em: 2001
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15. Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome.
A family is described in which craniosynostosis is associated with characteristic pinnae, a short columella, and symmetrical syndactyly of the fourth and fifth toes, inherited as an autosomal dominant condition. Various dominantly inherited syndromes involving craniosynostosis have been identified, but the constellation of findings in this family suggests a
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16. The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p.
Craniosynostosis or premature closure of the cranial sutures is a common abnormality occurring in about 1 in 2500 children. There is evidence of mendelian inheritance in some 20% of cases. Published reports of patients with structural alterations of the short arm of chromosome 7 have suggested that two or more genes for craniosynostosis may be situated in th
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17. De novo terminal deletion 7p22.1--pter in a child without craniosynostosis.
A patient with a de novo terminal deletion of the short arm of chromosome 7 (p22.1--pter) is described. Facial dysmorphism, a congenital heart defect, and genital hypoplasia were evident. There were no signs of craniosynostosis. Our observation confirms that deletion of 7p22 is not necessarily associated with craniosynostosis.
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18. Crouzon syndrome is not linked to craniosynostosis loci at 7p and 5qter.
Evidence for linkage has been sought, in four pedigrees with Crouzon syndrome, between polymorphic markers known to be linked to the Saethre-Chotzen locus on 7p and another form of autosomal dominant craniosynostosis on 5q. The data we present exclude Crouzon syndrome as an allelic variant at either of these known craniosynostosis loci.
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19. Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.
The craniosynostosis syndromes are a heterogeneous group of sporadic, autosomal dominant disorders with significant clinical overlap. Recently, we described a large family with autosomal dominant craniosynostosis suggestive of Saethre-Chotzen syndrome, in which linkage to the Saethre-Chotzen syndrome loci on 7p had been excluded. We now report the presence o
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20. Normal growth and development in a child with Baller-Gerold syndrome (craniosynostosis and radial aplasia).
The cardinal features of the Baller-Gerold syndrome (MIM *21860) are craniosynostosis and radial aplasia. Only 12 cases have been published and these are roughly divisible into two groups: cases without any additional abnormalities and cases with a broad range of additional features. We describe a boy with craniosynostosis and radial aplasia alone and highli
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21. Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
Several mutations involving the fibroblast growth factor receptor (FGFR) gene family have been identified in association with phenotypically distinct forms of craniosynostosis. One such point mutation, resulting in the substitution of proline by arginine in a critical region of the linker region between the first and second immunoglobulin-like domains, is as
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22. Unknown syndrome: congenital heart disease, ptosis, hypodontia, and craniosynostosis.
We report a child with total anomalous pulmonary venous drainage, ptosis, hypoplastic teeth, sagittal craniosynostosis, and developmental delay, together with several unusual features.
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23. Premature suture closure and ectopic cranial bone in mice expressing Msx2 transgenes in the developing skull.
The coordinate growth of the brain and skull is achieved through a series of interactions between the developing brain, the growing bones of the skull, and the fibrous joints, or sutures, that unite the bones. These interactions couple the expansion of the brain to the growth of the bony plates at the sutures. Craniosynostosis, the premature fusion of the bo
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24. Familial craniosynostosis, anal anomalies, and porokeratosis: CAP syndrome.
We report on the occurrence of coronal craniosynostosis, anal anomalies, and porokeratosis in two male sibs. A third male sib was phenotypically normal as were the parents. The occurrence of these three clinical features has, to our knowledge, not been reported before. Cutaneous or anal anomalies or both have been reported in a number of syndromes associated