Craniosynostosis
Mostrando 25-36 de 62 artigos, teses e dissertações.
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25. Family study of inherited syndrome with multiple congenital deformities: symphalangism, carpal and tarsal fusion, brachydactyly, craniosynostosis, strabismus, hip osteochondritis.
A syndrome of brachydactyly (absence of some middle or distal phalanges), aplastic or hypoplastic nails, symphalangism (ankylois of proximal interphalangeal joints), synostosis of some carpal and tarsal bones, craniosynostosis, and dysplastic hip joints is reported in five members of an Italian family. It may represent a previously undescribed autosomal domi
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26. Genomic Screening of Fibroblast Growth-Factor Receptor 2 Reveals a Wide Spectrum of Mutations in Patients with Syndromic Craniosynostosis
It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor–receptor family of signal-transduction molecules—namely, FGFR1, FGFR2, and FGFR3—contribute significantly to disorders of bone patterning and growth. FGFR3 mutations, which predominantly cause short-limbed bone dysplasia, occur in all three
The American Society of Human Genetics.
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27. Craniosynostosis
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28. Craniosynostosis.
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29. Craniofacial Surgery for Craniosynostosis
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30. Craniosynostosis in transgenic mice overexpressing Nell-1
American Society for Clinical Investigation.
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31. Craniosynostosis and chromosome 22q11 deletion.
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32. Absent fibula and craniosynostosis: a 25 year follow up.
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33. Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?
A mother and son are reported with bilateral, symmetrical syndactyly of the third, fourth, and fifth toes, mild craniosynostosis of the coronary sutures, and small pinnae. The same combination of malformations was recently described as a new syndrome by Kurczynsky and Casperson in a mother and her daughter. In addition, in the present family, the mother had
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34. The Baller-Gerold syndrome.
A case of severe craniosynostosis-radial aplasia (Baller-Gerold) syndrome is described in a newborn male, following a pregnancy complicated by polyhydramnios and intrauterine growth retardation. Death occurred after two hours owing to a prolonged apnoeic spell. Extensive agenesis of the frontal and parietal bones, resulting in a very large fontanelle, in add
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35. Ten-year experience with a new method in the treatment of craniosynostosis.
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36. Dissociated eye movements in craniosynostosis: a hypothesis revived.
A characteristic pattern of dissociated eye movements was observed in a large proportion of our patients with a variety of craniosynostosis syndromes. These anomalies simulate overaction of the inferior oblique and underaction of the superior oblique muscles which, however, cannot fully explain the abnormalities. In a number of cases, excyclorotation of the