Hypertelorism
Mostrando 1-12 de 60 artigos, teses e dissertações.
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1. Do you know this syndrome? Leopard syndrome
ABSTRACT Hypertrophic cardiomyopathy is known as Leopard syndrome, which is a mnemonic rule for multiple lentigines (L), electrocardiographic conduction abnormalities (E), ocular hypertelorism (O), pulmonary stenosis (P), abnormalities of genitalia (A), retardation of growth (R), and deafness (D). We report the case of a 12-year-old patient with some of the
An. Bras. Dermatol.. Publicado em: 2017-02
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2. Estudos moleculares em anomalias craniofaciais raras : sindrome blefaroqueilodontica e efeitos de linha media facial com hipertelorismo / Molecular biological studies in rare craniofacial anomalies : blepharocheilodontic syndrome and midline facial defects with hypertelorism
A Síndrome Blefaroqueilodôntica (BCD) e os Defeitos de Linha Média Facial com Hipertelorismo (DLMFH) são defeitos craniofaciais raros. Por esse motivo, os estudos de grandes casuísticas têm sido limitados. Contribuição científica significativa neste assunto tem sido dada por nosso grupo, que delineou características clínicas e diretrizes para segu
Publicado em: 2009
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3. Characterization of chromosome rearrangements in patients with multiple congenital malformation and/or mental retardation (MCM/MR) / Caracterização de rearranjos cromossômicos em pacientes com malformações congênitas múltiplas e/ou retardamento mental (MCA/MR)
Two apparently "de novo" balanced translocations and one duplication of the short arm of chromosome 20 were studied. Our aim was to determine the breakpoints by chromosomal analysis through fluorescentin situ hybridization (FISH) and identify candidate genes and how they were involved with the clinical phenotypes of the patients. Patient 1 carried a duplicat
Publicado em: 2008
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4. Investigação da região 22q11.2 em defeitos de linha media facial com hipertelorismo / 22q11.2 chromosome region and the Midline defects with Hipertelorism
Os Defeitos de Linha Média Facial com Hipertelorismo (DLMFH) constituem um grupo de anomalias craniofaciais raras e heterogêneas caracterizado por hipertelorismo ocular e fenda nasal mediana e (ou) lateral. Esses defeitos podem ocorrer isoladamente ou associados a dismorfismos com ou sem padrão definido, motivo pelo qual sua incidência não foi estabelec
Publicado em: 2008
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5. Malformações fetais, defeitos de desenvolvimento e sinais dismorficos em filhos de mães com epilepsia / Fetal malformations, development defects and dysmorphic signs in outcomes of women with epilepsy
Rationale: The majority of women with epilepsy do not experience significant changes during pregnancy; however the persistence of seizures and the effect of antiepileptic drugs (AED) may affect the fetus. These effects include lower intrauterine growth, dysmorphisms, fetal malformation and neuropsicomotor developmental delay. Most studies report that the ris
Publicado em: 2007
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6. Avaliação endocrinologica do eixo hipotalamo-adeno-hipofise em portadores de defeitos de linha media facial com hipertelorismo / Endocrinologic evaluation of hypothalamohypophysial axis in patients with midline facial defects with hypertelorism
The goal of this study was to evaluate the endocrinologic function of the hypothalamohypophysial axis in a sample of patients with midline facial defects with hypertelorism (MFDH). These facial defects are rare, happening in an isolated way or associated to pictures of multiple congenital anomalies (MCA) and, in a lot of times, with aetiology and transmissio
Publicado em: 2006
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7. Estudo do gene PTPN11 nos pacientes afetados pela síndrome de Noonan / The PTPN11 gene analysis in Noonan syndrome patients
INTRODUCTION: Noonan syndrome is an autosomal dominant disorder comprising short stature, facial dysmorphisms (ocular hypertelorism, downslanting palpebral fissures, palpebral ptosis, high arched palate and dental malocclusion), short and/or webbed neck, heart defects, mainly valvar pulmonary stenosis, sternal deformity and cryptorchidism in males. The PTPN1
Publicado em: 2006
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8. Estudos de neuroimagem quantitativa em individuos com anomalias craniofaciais
31 individuals were studied with different cranium-facial anomalies using a previously defined protocol, composed by clinical and cytogenetics evaluation, morphological evaluation (magnetic resonance image [MRI] with multiplanar reformatting [MPR]) and of functional investigation (Electroencephalogram [EEG] and/or single-photon emission computed tomographic
Publicado em: 2005
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9. 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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10. Um plano cirurgico para a correção do hipertelorismo orbital com base em um novo indice antropometrico
A total number of 656 patients in caucasian and negroid samples of the "Hospital de Clínicas da Faculdade de Ciências Médicas da Universidade Estadual de Campinas" were submitted to postero-anterior or antero-posterior roentgen projections of the skull. An anthropometric index based on the ratio between the internal interorbital distance and the mean hori
Publicado em: 1977
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11. The hypertelorism microtia clefting syndrome
A single case of the hypertelorism microtia clefting (HMC) syndrome, a rare autosomal recessive condition, is reported.
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12. Proteinuria in a patient with the diaphragmatic hernia-hypertelorism-myopia-deafness syndrome: further evidence that the facio-oculo-acoustico-renal syndrome represents the same entity.
We present a male infant with hypertelorism, severe myopia and sensorineural deafness, diaphragmatic hernia, and proteinuria. This patient combines features of two distinct genetic conditions, the syndrome of diaphragmatic hernia, exomphalos, absent corpus callosum, hypertelorism, myopia, and sensorineural deafness (MIM 222448), and the facio-oculo-acoustico