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The 'brain shadowing sign': a novel marker of fetal craniosynostosis
(Bmj Publishing Group, 2016)
Introduction: The prenatal diagnosis of fetal craniosynostosis is challenging, especially in single-suture cases. When sutures are obliterated, sound waves fail to penetrate the cortical bone, creating an evident acoustic ...
MICHELS SYNDROME IN A BRAZILIAN GIRL BORN TO CONSANGUINEOUS PARENTS
(Wiley-Blackwell, 1995-07-03)
We report on a Brazilian girl born to consanguineous parents and presenting with craniosynostosis, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, cleft lip and palate, skeletal defects, and hearing ...
Further evidence of association between mutations in FGFR2 and syndromic craniosynostosis with sacrococcygeal eversion
(Wiley-Blackwell, 2006-08-01)
BACKGROUND: Pfeiffer syndrome (PS; OMIM #101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, broad thumbs, brachydactyly, broad great toes, and variable syndactyly. CASE: We ...
Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly
(Blackwell Munksgaard, 2005-06-01)
Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. To contribute to a better understanding of the genetic basis of metopic synostosis and in an attempt to restrict ...
Effects of uterine cervix constriction on Wistar rats
(Acta Cirúrgica Brasileira, 2010-11-01)
Purpose: To verify if uterine cerclage can induce craniosynostosis or any cranial deformity in new born Wistar rats. Methods: One pregnant female Wistar rat underwent laparotomy on day 18 of gestation and the uterus cervix ...
RAB23 mutations in carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
(Univ Chicago Press, 2007-06-01)
Carpenter syndrome is a pleiotropic disorder with autosomal recessive inheritance, the cardinal features of which include craniosynostosis, polysyndactyly, obesity, and cardiac defects. Using homozygosity mapping, we found ...
Apert syndrome: Factors involved in the cognitive development
(2005-12-01)
Apert syndrome is characterized by craniosynostosis, symmetric syndactyly and other systemic malformations, with mental retardation usually present. The objective of this study was to correlate brain malformations and ...