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Schilbach-Rott/blepharofacioskeletal syndrome in a Brazilian patient
(Wiley-liss, 2008-08-15)
We report on a 4-year-old girl with blepharophimosis, a typical facial gestalt and skeletal abnormalities seen in the blepharofacioskeletal syndrome (BFSS). A comparative review with previous cases provides further evidence ...
LATE INFANTILE AUTOSOMAL RECESSIVE MYOTONIA, MENTAL-RETARDATION, AND SKELETAL ABNORMALITIES - A NEW AUTOSOMAL RECESSIVE SYNDROME
(British Med Journal Publ Group, 1984-01-01)
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 ...
Clinical manifestations and oral findings in fraser syndrome
(2007-09-01)
This article is the first known case report of Fraser syndrome in the dental literature. Its purpose was to present the clinical manifestations, oral findings, and dental treatment of a 14-year, 10-month-old female patient. ...
The Tel Hashomer camptodactyly syndrome: Report of a new case and review of the literature
(Wiley-Blackwell, 1988-02-01)
We report on a new case of Tel Hashomer camptodactyly syndrome and review the literature. This syndrome is characterized by skeletal dysplasia, muscle hypoplasia, camptodactyly, and abnormal dermatoglyphics. The inheritance ...
Speech therapy intervention before dental management in patients with special needs: A case report
(2012-06-01)
Fragile X syndrome is a cytogenetic abnormality related to chromosomal X. This syndrome is frequently associated to intellectual disability, psychological problems, as well as heart, skeletal and join alterations. Intraoral ...
Predictive factors of the contracture test for diagnosing malignant hyperthermia in a Brazilian population sample: a retrospective observational study
(SBA, 2023-03)
Introduction: Malignant Hyperthermia (MH) is a pharmacogenetic, hereditary and autosomal dominant syndrome triggered by halogenates/succinylcholine. The In Vitro Contracture Test (IVCT) is the gold standard diagnostic test ...
Evaluation of neonatally-induced mild diabetes in rats: Maternal and fetal repercussions
(Biomed Central Ltd., 2010-06-08)
Many experimental studies have been performed to evaluate mild diabetes effects. However, results are divergent regarding glycemia and insulin measurement, fetal macrossomia, and placental weights. The aim was to investigate ...
Avaliação cefalométrica do espaço aéreo posterior em pacientes com oclusão Classe II submetidos à cirurgia ortognática
(Dental Press Editora, 2007-10-01)
OBJETIVO: o avanço maxilomandibular é um método cirúrgico comumente usado no tratamento de pacientes acometidos pela Síndrome da Apnéia Obstrutiva do Sono (SAOS) e portadores de anormalidades anatômicas identificáveis neste ...