Craniofacial Abnormality
Mostrando 1-11 de 11 artigos, teses e dissertações.
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1. Craniofacial anomalies associated with hypospadias. Description of a hospital based population in South America
ABSTRACT Introduction: Hypospadias is a congenital abnormality of the penis, in which there is incomplete development of the distal urethra. There are numerous reports showing an increase of prevalence of hypospadias. Association of craniofacial malformations in patients diagnosed with hypospadias is rare. The aim of this study is to describe the associatio
Int. braz j urol.. Publicado em: 2016-08
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2. Muldisciplinary evaluation of patients with anterior encephalocele: analysis of cranial, brain, neuropsychological and language disorders / Avaliação multidisciplinar de pacientes com encefalocele anterior: análise das alterações cranianas, encefálicas, neuropsicológicas e de linguagem
Objective: To evaluate cranial and brain abnormalities in patients with anterior encephalocele and to analyze relevant aspects to their neuropsychological development, language and quality of live. Model: Transversal study in patients with anterior encephalocele, who underwent a multidisciplinary team assessment (craniofacial, socioeconomic, neuroradiologica
Publicado em: 2008
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3. Tooth abnormalities, soft tissue changes and craniofacial morphology in patients with velocardiofacial syndrome and G/BBB syndrome / Disgenesias dentárias, alterações de tecido mole e morfologia craniofacial em pacientes com síndrome velocardiofacial e síndrome G/BBB
This study investigated the prevalence of tooth abnormalities, soft tissue changes and cephalometric analysis in patients with velocardiofacial syndrome and G/BBB syndrome. The presence of tooth abnormalities was evaluated in patients older than six years; cephalometric analysis was conducted on lateral cephalograms obtained before any orthodontic interventi
Publicado em: 2007
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4. Cytogenetics investigation on orofacial cleft individuals and screening of informative cases for further studies / Investigação citogenetica em individuos com fendas orofaciais e triagem dos casos informativos para estudos especificos
Cleft lip with or without cleft palate (CL/P) occurs in approximately 1/500 to 1/1000 newborns and cleft palate (CP), etiologically distinct, in approximately 0,4/1000 newborns. They have a complex etiology, and the great majority of clefts appear to be isolated anomalies, in which have been observed a very important genetic component. However, in a signific
Publicado em: 2007
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5. 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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6. Mosaic partial trisomy 17q2.
Examination of an infant born after prenatal diagnosis of mosaic partial trisomy 17q2 showed the unique phenotypic features of this chromosomal abnormality, that is, frontal bossing, large mouth, brachyrhizomelia, and hexadactyly. Amniocentesis was performed because of polyhydramnios and ultrasound diagnosis of fetal craniofacial dysmorphology and rhizomelic
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7. A case of de novo interstitial deletion 3q.
A rare chromosome abnormality consisting of interstitial deletion 3q was found in a malformed girl. Chromosome analysis using G and Q banding showed deletion of bands 3q12----3q21: 46,XX,del(3)(pter----q12::q21----qter). The clinical features of the proband included severe psychomotor retardation, craniofacial asymmetry, hypertelorism, epicanthus, high arche
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8. Ophthalmic features and visual prognosis in the Treacher-Collins syndrome.
The ocular findings and visual prognosis were reviewed in 24 patients with the Treacher-Collins syndrome who were evaluated in the craniofacial clinic in the Division of Pediatric Ophthalmology at Children's Hospital of Philadelphia between 1980 and 1991. All patients had some abnormality. Vision loss was present in 37% of patients. Amblyopia was present in
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9. The Treacher Collins syndrome (TCOF1) gene product is involved in ribosomal DNA gene transcription by interacting with upstream binding factor
Treacher Collins syndrome (TCS) is an autosomal dominant disorder characterized by an abnormality of craniofacial development that arises during early embryogenesis. TCS is caused by mutations in the gene TCOF1, which encodes the nucleolar phosphoprotein treacle. Even though the genetic alterations causing TCS have been uncovered, the mechanism underlying it
National Academy of Sciences.
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10. Characterization of lpa2 (Edg4) and lpa1/lpa2 (Edg2/Edg4) Lysophosphatidic Acid Receptor Knockout Mice: Signaling Deficits without Obvious Phenotypic Abnormality Attributable to lpa2
Lysophosphatidic acid (LPA), a bioactive lipid produced by several cell types including postmitotic neurons and activated platelets, is thought to be involved in various biological processes, including brain development. Three cognate G protein-coupled receptors encoded by lpa1/lpA1/Edg-2/Gpcr26, lpa2/lpA2/Edg-4, and lpa3/lpA3/Edg-7 mediate the cellular effe
American Society for Microbiology.
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11. Two sibs with Wolf-Hirschhorn and DiGeorge deletions resulting from an unbalanced chromosome rearrangement, 45,XX/XY, der(4)t(4;22) (p16.3;q11.2) mat,-22.
A mother with apparently balanced translocation between chromosomes 4 and 22 gave birth to two children (sib 1 and twin A) with 45,XX,der(4)t(4;22) (p16.3;q11.2)mat,-22 and 45,XY,der(4)t(4; 22(p16.3;q11.2)mat,-22 karyotypes. The mother was a slow learner and required special education. The imbalance in the sibs arose through a 3:1 malsegregation in the mothe