Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 36
Filtrar
Mais filtros










Tipo de estudo
Intervalo de ano de publicação
2.
Hum Mutat ; 38(10): 1365-1371, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28649782

RESUMO

Pathogenic variants in genes encoding components of the BRG1-associated factor (BAF) chromatin remodeling complex have been associated with intellectual disability syndromes. We identified heterozygous, novel variants in ACTL6A, a gene encoding a component of the BAF complex, in three subjects with varying degrees of intellectual disability. Two subjects have missense variants affecting highly conserved amino acid residues within the actin-like domain. Missense mutations in the homologous region in yeast actin were previously reported to be dominant lethal and were associated with impaired binding of the human ACTL6A to ß-actin and BRG1. A third subject has a splicing variant that creates an in-frame deletion. Our findings suggest that the variants identified in our subjects may have a deleterious effect on the function of the protein by disturbing the integrity of the BAF complex. Thus, ACTL6A gene mutation analysis should be considered in patients with intellectual disability, learning disabilities, or developmental language disorder.


Assuntos
Actinas/genética , Proteínas Cromossômicas não Histona/genética , Proteínas de Ligação a DNA/genética , Deformidades Congênitas da Mão/genética , Deficiência Intelectual/genética , Mutação de Sentido Incorreto/genética , Adolescente , Criança , Montagem e Desmontagem da Cromatina/genética , DNA Helicases/genética , Exoma , Face , Feminino , Deformidades Congênitas da Mão/fisiopatologia , Heterozigoto , Humanos , Deficiência Intelectual/fisiopatologia , Masculino , Micrognatismo/genética , Micrognatismo/fisiopatologia , Complexos Multiproteicos/genética , Proteínas Nucleares/genética , Ligação Proteica , Fatores de Transcrição/genética
3.
J Hum Genet ; 62(4): 465-471, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28003643

RESUMO

Kaufman oculo-cerebro-facial syndrome (KOS) is caused by recessive UBE3B mutations and presents with microcephaly, ocular abnormalities, distinctive facial morphology, low cholesterol levels and intellectual disability. We describe a child with microcephaly, brachycephaly, hearing loss, ptosis, blepharophimosis, hypertelorism, cleft palate, multiple renal cysts, absent nails, small or absent terminal phalanges, absent speech and intellectual disability. Syndromes that were initially considered include DOORS syndrome, Coffin-Siris syndrome and Dubowitz syndrome. Clinical investigations coupled with karyotype analysis, array-comparative genomic hybridization, exome and Sanger sequencing were performed to characterize the condition in this child. Sanger sequencing was negative for the DOORS syndrome gene TBC1D24 but exome sequencing identified a homozygous deletion in UBE3B (NM_183415:c.3139_3141del, p.1047_1047del) located within the terminal portion of the HECT domain. This finding coupled with the presence of characteristic features such as brachycephaly, ptosis, blepharophimosis, hypertelorism, short palpebral fissures, cleft palate and developmental delay allowed us to make a diagnosis of KOS. In conclusion, our findings highlight the importance of considering KOS as a differential diagnosis for patients under evaluation for DOORS syndrome and expand the phenotype of KOS to include small or absent terminal phalanges, nails, and the presence of hallux varus and multicystic dysplastic kidneys.


Assuntos
Anormalidades Múltiplas/genética , Diagnóstico Diferencial , Anormalidades do Olho/genética , Deficiência Intelectual/genética , Deformidades Congênitas dos Membros/genética , Microcefalia/genética , Ubiquitina-Proteína Ligases/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/fisiopatologia , Adulto , Proteínas de Transporte/genética , Criança , Pré-Escolar , Eczema/diagnóstico , Eczema/genética , Eczema/fisiopatologia , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/fisiopatologia , Face/anormalidades , Face/fisiopatologia , Facies , Feminino , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/genética , Transtornos do Crescimento/fisiopatologia , Deformidades Congênitas da Mão/diagnóstico , Deformidades Congênitas da Mão/genética , Deformidades Congênitas da Mão/fisiopatologia , Humanos , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/fisiopatologia , Cariótipo , Deformidades Congênitas dos Membros/diagnóstico , Deformidades Congênitas dos Membros/fisiopatologia , Masculino , Microcefalia/diagnóstico , Microcefalia/fisiopatologia , Micrognatismo/diagnóstico , Micrognatismo/genética , Micrognatismo/fisiopatologia , Mutação , Pescoço/anormalidades , Pescoço/fisiopatologia , Patologia Molecular , Análise de Sequência de DNA
6.
Mol Genet Metab ; 119(1-2): 83-90, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27370710

RESUMO

BACKGROUND: Miller syndrome (post-axial acrofacial dysostosis) arises from gene mutations for the mitochondrial enzyme dihydroorotate dehydrogenase (DHODH). Nonetheless, despite demonstrated loss of enzyme activity dihydroorotate (DHO) has not been shown to accumulate, but paradoxically urine orotate has been reported to be raised, confusing the metabolic diagnosis. METHODS: We analysed plasma and urine from a 4-year-old male Miller syndrome patient. DHODH mutations were determined by PCR and Sanger sequencing. Analysis of DHO and orotic acid (OA) in urine, plasma and blood-spot cards was performed using liquid chromatography-tandem mass spectrometry. In vitro stability of DHO in distilled water and control urine was assessed for up to 60h. The patient received a 3-month trial of oral uridine for behavioural problems. RESULTS: The patient had early liver complications that are atypical of Miller syndrome. DHODH genotyping demonstrated compound-heterozygosity for frameshift and missense mutations. DHO was grossly raised in urine and plasma, and was detectable in dried spots of blood and plasma. OA was raised in urine but undetectable in plasma. DHO did not spontaneously degrade to OA. Uridine therapy did not appear to resolve behavioural problems during treatment, but it lowered plasma DHO. CONCLUSION: This case with grossly raised plasma DHO represents the first biochemical confirmation of functional DHODH deficiency. DHO was also easily detectable in dried plasma and blood spots. We concluded that DHO oxidation to OA must occur enzymatically during renal secretion. This case resolved the biochemical conundrum in previous reports of Miller syndrome patients, and opened the possibility of rapid biochemical screening.


Assuntos
Anormalidades Múltiplas/genética , Deformidades Congênitas dos Membros/genética , Disostose Mandibulofacial/genética , Micrognatismo/genética , Ácido Orótico/análogos & derivados , Oxirredutases atuantes sobre Doadores de Grupo CH-CH/genética , Anormalidades Múltiplas/sangue , Anormalidades Múltiplas/fisiopatologia , Anormalidades Múltiplas/urina , Pré-Escolar , Genótipo , Humanos , Deformidades Congênitas dos Membros/sangue , Deformidades Congênitas dos Membros/fisiopatologia , Deformidades Congênitas dos Membros/urina , Masculino , Disostose Mandibulofacial/sangue , Disostose Mandibulofacial/fisiopatologia , Disostose Mandibulofacial/urina , Micrognatismo/sangue , Micrognatismo/fisiopatologia , Micrognatismo/urina , Mutação , Ácido Orótico/sangue , Ácido Orótico/urina , Oxirredução , Oxirredutases atuantes sobre Doadores de Grupo CH-CH/sangue , Oxirredutases atuantes sobre Doadores de Grupo CH-CH/urina , Uridina/sangue , Uridina/urina
7.
Am J Med Genet A ; 170(7): 1754-62, 2016 07.
Artigo em Inglês | MEDLINE | ID: mdl-27112773

RESUMO

The genetic basis of numerous intellectual disability (ID) syndromes has recently been identified by applying exome analysis on a research or clinical basis. There is significant clinical overlap of biologically related syndromes, as exemplified by Nicolaides-Baraitser (NCBRS) and Coffin-Siris (CSS) syndrome. Both result from mutations affecting the BAF (mSWI/SNF) complex and belong to the growing category of BAFopathies. In addition to the notable clinical overlap between these BAFopathies, heterogeneity exists for patients clinically diagnosed with one of these conditions. We report two teenagers with ID whose molecular diagnosis of a SMARC2A or ARID1B mutation, respectively, was established through clinical exome analysis. Interestingly, using only the information provided in a single clinically obtained facial photograph from each patient, the facial dysmorphology analysis detected similarities to facial patterns associated with NCBRS as the first suggestion for both individuals, followed by CSS as the second highest ranked in the individual with the ARID1B mutation. Had this information been available to the laboratory performing the exome analysis, it could have been utilized during the variant analysis and reporting process, in conjunction with the written summary provided with each test requisition. While the available massive parallel sequencing technology, variant calling and variant interpretation are constantly evolving, clinical information remains critical for this diagnostic process. When trio analysis is not feasible, additional diagnostic tools may become particularly valuable. Facial dysmorphology analysis data may supplement the clinical phenotype summary and provide data independent of the clinician's personal experience and bias. © 2016 Wiley Periodicals, Inc.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Craniofaciais/diagnóstico , Proteínas de Ligação a DNA/genética , Face/anormalidades , Deformidades Congênitas do Pé/diagnóstico , Deformidades Congênitas da Mão/diagnóstico , Hipotricose/diagnóstico , Deficiência Intelectual/diagnóstico , Micrognatismo/diagnóstico , Atrofia Muscular/diagnóstico , Pescoço/anormalidades , Fatores de Transcrição/genética , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/fisiopatologia , Adolescente , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/fisiopatologia , Exoma/genética , Face/fisiopatologia , Facies , Feminino , Deformidades Congênitas do Pé/genética , Deformidades Congênitas do Pé/fisiopatologia , Deformidades Congênitas da Mão/genética , Deformidades Congênitas da Mão/fisiopatologia , Humanos , Hipotricose/genética , Hipotricose/fisiopatologia , Deficiência Intelectual/genética , Deficiência Intelectual/fisiopatologia , Masculino , Micrognatismo/genética , Micrognatismo/fisiopatologia , Atrofia Muscular/genética , Atrofia Muscular/fisiopatologia , Mutação , Pescoço/fisiopatologia , Proteínas Nucleares/genética , Patologia Molecular , Fenótipo
8.
Am J Med Genet A ; 170A(5): 1115-26, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26971886

RESUMO

Cerebro-Costo-Mandibular syndrome (CCMS) is a rare autosomal dominant condition comprising branchial arch-derivative malformations with striking rib-gaps. Affected patients often have respiratory difficulties, associated with upper airway obstruction, reduced thoracic capacity, and scoliosis. We describe a series of 12 sporadic and 4 familial patients including 13 infants/children and 3 adults. Severe micrognathia and reduced numbers of ribs with gaps are consistent findings. Cleft palate, feeding difficulties, respiratory distress, tracheostomy requirement, and scoliosis are common. Additional malformations such as horseshoe kidney, hypospadias, and septal heart defect may occur. Microcephaly and significant developmental delay are present in a small minority of patients. Key radiological findings are of a narrow thorax, multiple posterior rib gaps and abnormal costo-transverse articulation. A novel finding in 2 patients is bilateral accessory ossicles arising from the hyoid bone. Recently, specific mutations in SNRPB, which encodes components of the major spliceosome, have been found to cause CCMS. These mutations cluster in an alternatively spliced regulatory exon and result in altered SNRPB expression. DNA was available from 14 patients and SNRPB mutations were identified in 12 (4 previously reported). Eleven had recurrent mutations previously described in patients with CCMS and one had a novel mutation in the alternative exon. These results confirm the specificity of SNRPB mutations in CCMS and provide further evidence for the role of spliceosomal proteins in craniofacial and thoracic development.


Assuntos
Anormalidades Múltiplas/genética , Fissura Palatina/genética , Deficiência Intelectual/genética , Micrognatismo/genética , Costelas/anormalidades , Proteínas Centrais de snRNP/genética , Anormalidades Múltiplas/fisiopatologia , Adolescente , Criança , Pré-Escolar , Fissura Palatina/complicações , Fissura Palatina/fisiopatologia , Éxons , Feminino , Humanos , Lactente , Deficiência Intelectual/complicações , Deficiência Intelectual/fisiopatologia , Masculino , Micrognatismo/complicações , Micrognatismo/fisiopatologia , Mutação , Costelas/crescimento & desenvolvimento , Costelas/fisiopatologia , Escoliose/complicações , Escoliose/genética , Escoliose/fisiopatologia , Spliceossomos/genética
9.
J Med Genet ; 53(3): 152-62, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26543203

RESUMO

BACKGROUND: SOX11 is a transcription factor proposed to play a role in brain development. The relevance of SOX11 to human developmental disorders was suggested by a recent report of SOX11 mutations in two patients with Coffin-Siris syndrome. Here we further investigate the role of SOX11 variants in neurodevelopmental disorders. METHODS: We used array based comparative genomic hybridisation and trio exome sequencing to identify children with intellectual disability who have deletions or de novo point mutations disrupting SOX11. The pathogenicity of the SOX11 mutations was assessed using an in vitro gene expression reporter system. Loss-of-function experiments were performed in xenopus by knockdown of Sox11 expression. RESULTS: We identified seven individuals with chromosome 2p25 deletions involving SOX11. Trio exome sequencing identified three de novo SOX11 variants, two missense (p.K50N; p.P120H) and one nonsense (p.C29*). The biological consequences of the missense mutations were assessed using an in vitro gene expression system. These individuals had microcephaly, developmental delay and shared dysmorphic features compatible with mild Coffin-Siris syndrome. To further investigate the function of SOX11, we knocked down the orthologous gene in xenopus. Morphants had significant reduction in head size compared with controls. This suggests that SOX11 loss of function can be associated with microcephaly. CONCLUSIONS: We thus propose that SOX11 deletion or mutation can present with a Coffin-Siris phenotype.


Assuntos
Anormalidades Múltiplas/genética , Face/anormalidades , Deformidades Congênitas da Mão/genética , Deficiência Intelectual/genética , Micrognatismo/genética , Pescoço/anormalidades , Transtornos do Neurodesenvolvimento/genética , Fatores de Transcrição SOXC/genética , Deleção de Sequência , Anormalidades Múltiplas/fisiopatologia , Adolescente , Adulto , Animais , Criança , Pré-Escolar , Face/fisiopatologia , Feminino , Técnicas de Silenciamento de Genes , Deformidades Congênitas da Mão/fisiopatologia , Humanos , Deficiência Intelectual/fisiopatologia , Masculino , Microcefalia , Micrognatismo/fisiopatologia , Pescoço/fisiopatologia , Transtornos do Neurodesenvolvimento/fisiopatologia , Xenopus
10.
Rev. esp. cir. oral maxilofac ; 37(2): 71-79, abr.-jun. 2015. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-139752

RESUMO

Introducción: La secuencia de Pierre Robin es una tríada caracterizada por micrognatia, glosoptosis y obstrucción respiratoria alta con o sin paladar hendido. La mayoría de los pacientes responden al tratamiento postural, aunque en ocasiones extremas hay que realizar traqueotomía. En la actualidad la distracción mandibular es la alternativa eficaz de tratamiento que elonga la mandíbula y resuelve la obstrucción respiratoria. La elección del vector de distracción es importante en los cambios de dimensión de la vía aérea. Pacientes y métodos: El objetivo del estudio es evaluar los cambios producidos en las dimensiones de la vía aérea superior en 8 niños, con secuencia de Pierre Robin, tratados con distracción mandibular dependiendo del vector de distracción planificado. Para ello realizamos una radiografía lateral de cráneo pre y posdistracción, trazamos una línea que une el plano mandibular con la base de la lengua hasta la pared posterior de la faringe y medimos los milímetros de separación entre ambas estructuras. Resultados y conclusiones: Analizando los resultados obtenidos, el vector de distracción horizontal en primer lugar y en segundo lugar el oblicuo son de elección por su repercusión positiva en la vía aérea (AU)


Introduction: The Pierre Robin syndrome, or sequence, is a triad characterized by micrognathia, glossoptosis and upper respiratory obstruction, with or without cleft palate. Most patients respond to postural treatment, although tracheotomy is necessary on extreme occasions. Mandibular distraction is currently an effective therapeutic alternative that elongates the jaw and resolves the respiratory obstruction. The choice of vector for distraction is essential for modifying the dimensions of the airways. Patients and methods: The objective of this study is to evaluate the changes produced in the dimensions of the upper airways in eight children with Pierre Robin sequence, treated with mandibular distraction, depending on the vector of distraction planned. To this end, a lateral cranial X-ray was performed pre- and post-distraction, tracing a line from the mandibular plane to the base of the tongue and as far as the posterior pharyngeal wall, measuring the milimeters of separation between the two structures. Results and conclusions: The results showed that the horizontal distraction vector, in the first place, and the oblique vector in the second place, would be the procedures of choice in view of their positive effects on the airways (AU)


Assuntos
Humanos , Síndrome de Pierre Robin/fisiopatologia , Anormalidades do Sistema Respiratório/diagnóstico , Sistema Respiratório/anatomia & histologia , Micrognatismo/fisiopatologia , Apneia Obstrutiva do Sono/diagnóstico , Osteogênese por Distração/métodos , Resultado do Tratamento , Traqueotomia
11.
J Obstet Gynaecol Res ; 40(8): 2005-9, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-25131767

RESUMO

We present a case of fetal severe micrognathia in which successful airway stabilization was achieved by an ex utero intrapartum treatment procedure. In this case, it was anticipated that the infant would have a vulnerable airway at birth based on in utero sonographic findings, including an extremely hypoplastic jaw, worsening polyhydramnios and absence of stomach visualization. Early sonographic recognition was helpful in preparing the parents and physicians for the possibility of airway emergencies during the perinatal period. When a severely hypoplastic mandible accompanied by polyhydramnios and absent stomach visualization is noted on ultrasound, clinicians should consider the indication for ex utero intrapartum treatment. A multidisciplinary team with technically skilled medical providers should be coordinated to perform the procedure.


Assuntos
Obstrução das Vias Respiratórias/prevenção & controle , Cesárea , Cuidados Intraoperatórios , Micrognatismo/cirurgia , Assistência Perinatal , Traqueostomia , Adulto , Obstrução das Vias Respiratórias/etiologia , Feminino , Humanos , Imagem Tridimensional , Recém-Nascido de Baixo Peso , Recém-Nascido , Japão , Micrognatismo/diagnóstico por imagem , Micrognatismo/embriologia , Micrognatismo/fisiopatologia , Poli-Hidrâmnios/etiologia , Gravidez , Estômago/diagnóstico por imagem , Estômago/embriologia , Resultado do Tratamento , Ultrassonografia Pré-Natal
12.
Genet Couns ; 25(2): 189-95, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25059018

RESUMO

The Meier-Gorlin syndrome (MGS) or ear, patella, short stature syndrome (MIM #224690) is a rare disorder with bilateral microtia, aplasia or hypoplasia of the patellae and severe intra-uterine and post-natal growth retardation. We report the case of a 10-year-old male with MGS diagnosis, his parents were related, he also showed conductive hearing loss and maloclussion and long upper central incisors, more importantly he had asymmetry of the left cerebral hemisphere and ventricular system, his intelligence was normal. As far as we know, these abnormalities have not been previously described in patients with MGS and the present report corresponds to the first Mexican case described so far.


Assuntos
Anormalidades Múltiplas/patologia , Ventrículos Cerebrais/anormalidades , Orelha/anormalidades , Transtornos do Crescimento/patologia , Micrognatismo/patologia , Patela/anormalidades , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/fisiopatologia , Criança , Microtia Congênita , Consanguinidade , Orelha/patologia , Orelha/fisiopatologia , Transtornos do Crescimento/genética , Transtornos do Crescimento/fisiopatologia , Humanos , Masculino , México , Micrognatismo/genética , Micrognatismo/fisiopatologia , Patela/patologia , Patela/fisiopatologia
13.
Neuropharmacology ; 80: 83-94, 2014 May.
Artigo em Inglês | MEDLINE | ID: mdl-24434855

RESUMO

Cognitive disorders (CDs) are a heterogeneous group of disorders for which the genetic foundations are rapidly being uncovered. The large number of CD-associated gene mutations presents an opportunity to identify common mechanisms of disease as well as molecular processes that are of key importance to human cognition. Given the disproportionately high number of epigenetic genes associated with CD, epigenetic regulation of gene transcription is emerging as a process of major importance in cognition. The cognate protein products of these genes often co-operate in shared protein complexes or pathways, which is reflected in similarities between the neurodevelopmental phenotypes corresponding to these mutant genes. Here we provide an overview of the genes associated with CDs, and highlight some of the epigenetic regulatory complexes involving multiple CD genes. Such common gene networks may provide a handle for designing therapeutic interventions applicable to a number of cognitive disorders with variable genetic etiology.


Assuntos
Encéfalo/metabolismo , Transtornos Cognitivos/metabolismo , Cognição , Epigênese Genética , Modelos Biológicos , Neurônios/metabolismo , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/metabolismo , Anormalidades Múltiplas/fisiopatologia , Animais , Encéfalo/enzimologia , Montagem e Desmontagem da Cromatina , Deleção Cromossômica , Cromossomos Humanos Par 9/genética , Cromossomos Humanos Par 9/metabolismo , Transtornos Cognitivos/etiologia , Transtornos Cognitivos/genética , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/metabolismo , Anormalidades Craniofaciais/fisiopatologia , Face/anormalidades , Face/fisiopatologia , Facies , Deformidades Congênitas do Pé/genética , Deformidades Congênitas do Pé/metabolismo , Deformidades Congênitas do Pé/fisiopatologia , Regulação da Expressão Gênica , Deformidades Congênitas da Mão/genética , Deformidades Congênitas da Mão/metabolismo , Deformidades Congênitas da Mão/fisiopatologia , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/metabolismo , Cardiopatias Congênitas/fisiopatologia , Humanos , Hipotricose/genética , Hipotricose/metabolismo , Hipotricose/fisiopatologia , Deficiência Intelectual/genética , Deficiência Intelectual/metabolismo , Deficiência Intelectual/fisiopatologia , Micrognatismo/genética , Micrognatismo/metabolismo , Micrognatismo/fisiopatologia , Mutação , Pescoço/anormalidades , Pescoço/fisiopatologia , Proteínas do Tecido Nervoso/genética , Proteínas do Tecido Nervoso/metabolismo , Neurônios/enzimologia
15.
Kathmandu Univ Med J (KUMJ) ; 10(37): 72-6, 2012 Jan-Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22971867

RESUMO

Our life span is genetically programmed and it is possible that a defect in produced proteins encoded by the longevity gene is a cause of aging. Progeria which is a rare, fatal genetic condition which affects between one in four million and one in eight million children of both sexes equally and characterized by premature and accelerated aging. The appearance and physiology of these children resembles to elderly people but they typically have life span to their mid teens. It is also known as the Hutchinson-Gilford syndrome, which was initially reported by Johnathan Hutchinson in 1886 and further described by Hastings Gilford in 1904. It is an autosomal recessive disorder, which means an individual has inherited a mutated gene from both parents. It is added to the expanding catalogue of laminopathies, diseases caused by mutations affecting nuclear lamina proteins known as lamin A (LMNA). In oral manifestation primary finding is micrognathia with delayed tooth eruption and incomplete formation of root of permanent tooth. Presently there are no known cures for this abnormality.


Assuntos
Micrognatismo/genética , Micrognatismo/fisiopatologia , Progéria/genética , Progéria/fisiopatologia , Humanos , Laminas/genética , Erupção Dentária/fisiologia
16.
J Paediatr Child Health ; 44(1-2): 78-9, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-18086042

RESUMO

In an infant with micrognathia, who was being evaluated after an apparent life-threatening event, respiration timed lateral radiographs showed an increase in the width of the middle airway space during inspiration from 2 mm without the pacifier to 9 mm while sucking on a pacifier. This observation is consistent with the hypothesis that the well-documented association between the pacifier use and reduced risk of sudden infant death syndrome may be at least in part related to changes in airway size.


Assuntos
Micrognatismo/terapia , Chupetas , Comportamento de Sucção/fisiologia , Morte Súbita do Lactente/prevenção & controle , Cianose , Humanos , Lactente , Masculino , Micrognatismo/diagnóstico por imagem , Micrognatismo/fisiopatologia , Nova Zelândia , Radiografia , Fenômenos Fisiológicos Respiratórios , Sistema Respiratório/anatomia & histologia , Sistema Respiratório/patologia
17.
Stomatologiia (Mosk) ; 78(6): 28-30, 1999.
Artigo em Russo | MEDLINE | ID: mdl-10590698

RESUMO

The temporomandibular joint has been examined in patients with combined deformations of the jaws (upper micro- or retrognathia and lower macro- or prognathism) before and after surgical treatment of the maxilla and mandible. Analysis of changes in the temporomandibular joint at all stages of medical rehabilitation showed that structural changes develop only in 8% patients only after planar osteotomy of the mandible through external or oral approach.


Assuntos
Mandíbula/anormalidades , Maxila/anormalidades , Micrognatismo/fisiopatologia , Prognatismo/fisiopatologia , Retrognatismo/fisiopatologia , Articulação Temporomandibular/fisiopatologia , Adolescente , Adulto , Feminino , Seguimentos , Humanos , Masculino , Mandíbula/cirurgia , Maxila/cirurgia , Micrognatismo/cirurgia , Osteotomia , Prognatismo/cirurgia , Radiografia , Retrognatismo/cirurgia , Articulação Temporomandibular/diagnóstico por imagem , Fatores de Tempo
18.
J Oral Maxillofac Surg ; 57(10): 1175-80; discussion 1181, 1999 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-10513862

RESUMO

PURPOSE: This study investigated the relationship of age at surgery and type of fixation to the pattern and extent of bone remodeling associated with inferior border osteotomy for chin augmentation. PATIENTS AND METHODS: Four groups of patients with similar chin advancement were established by age at the time of surgery: younger than 15, 15 to 19, 20 to 24, and older than 39 years. Cephalometric radiographs for immediate preoperative, immediate postoperative, and at least 9 months postoperative times were traced, digitized, and superimposed. RESULTS: The pattern of osseous remodeling was similar for all age-groups. This consisted of resorption of the superior-buccal aspect of the distal segment, bone apposition on the buccal surface of the proximal segment, and modest resorption at pogonion (mean change, 1 mm or less). There was no significant difference in stability of the chin advancement between wire and rigid (screw) fixation. There was a marked difference in the symphysis thickness regeneration of the youngest group (92% of the original symphysis thickness) compared with the rest of the groups (< or =66%, P < .001). CONCLUSIONS: Minimal remodeling at pogonion occurs in all age-groups with both wire and rigid fixation. Regeneration of symphysis thickness is much more complete in patients younger than 15 years at the time of surgery. This is potentially important for early treatment of severe chin deficiency, because it permits additional advancement of the chin later in life, if necessary.


Assuntos
Remodelação Óssea , Queixo/cirurgia , Avanço Mandibular , Osteotomia , Adolescente , Adulto , Envelhecimento , Cefalometria/métodos , Cefalometria/estatística & dados numéricos , Queixo/diagnóstico por imagem , Análise Fatorial , Humanos , Micrognatismo/diagnóstico por imagem , Micrognatismo/fisiopatologia , Micrognatismo/cirurgia , Radiografia , Distribuição Aleatória , Retrognatismo/diagnóstico por imagem , Retrognatismo/fisiopatologia , Retrognatismo/cirurgia , Estudos Retrospectivos , Fatores de Tempo
19.
Am J Med Genet ; 62(3): 286-92, 1996 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-8882789

RESUMO

We describe two boys with the cerebro-costo-mandibular syndrome (CCMS). Both patients presented with Pierre Robin anomaly and respiratory insufficiency and died 12 hours and 10 months after birth. The first boy had muscular hypotonia, severe micrognathia, glossoptosis, short palate, preauricular tag, paraumbilical fibroma, and a small and narrow thorax. His chest roentgenographs showed marked hypoplasia of the first to tenth rib, multiple posterior rib-gaps in the only four ossified ribs. Tracheomalacia and stenosis of the left ureter was observed during autopsy. No structural cerebral anomalies were observed. Respiratory distress necessitated a tracheostomy in the second boy. He had severe micrognathia with glossoptosis and a cleft soft palate were noted. His chest roentgenograph showed a bell-shaped, small thorax with multiple dorsal rib-gap defects. CCMS is a rare disorder often associated with Pierre Robin anomaly. Chest roentgenographs show the typical posterior rib-gap defects, which are quite variable. CCMS usually occurs as an isolated event in a family. Of 41 reported families four reports describe horizontal and two describe vertical transmission of CCMS. This might imply genetic heterogeneity with autosomal recessive and autosomal dominant inheritance. Inter- and intrafamilial expression is variable. Careful family studies are necessary before genetic counseling is given.


Assuntos
Tórax Fundido/complicações , Mandíbula/anormalidades , Micrognatismo/complicações , Costelas/anormalidades , Tórax Fundido/fisiopatologia , Humanos , Lactente , Recém-Nascido , Masculino , Micrognatismo/patologia , Micrognatismo/fisiopatologia , Síndrome
20.
J Clin Anesth ; 7(5): 417-21, 1995 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-7576679

RESUMO

Patients with the obstructive sleep apnea syndrome (OSAS) are predisposed to respiratory complications under the influence of sedative and anesthetic drugs because of these drugs' alternation of respiratory control with a tendency for upper airway collapse. Additional difficulties for airway management during anesthesia may arise if fixed anatomic obstacles block the upper airway. We present a case of a patient with OSAS scheduled for general anesthesia for nasal polypectomy and correction of a deviated septum. Preoperative evaluation revealed several factors known to be associated with difficult intubation and ventilation: nasal obstruction, maxillofacial malformation (micrognathia), reduced temporomandibular joint mobility, and obesity. An individualized strategy of airway management based on published standards was developed and successfully applied. It involved fiberoptic guided intubation through a laryngeal mask airway. This case illustrates the management of patients with OSAS and additional conditions that reduce upper airway patency.


Assuntos
Anestesia Geral , Intubação Intratraqueal , Máscaras Laríngeas , Síndromes da Apneia do Sono/fisiopatologia , Síndromes da Apneia do Sono/cirurgia , Adulto , Feminino , Tecnologia de Fibra Óptica , Humanos , Micrognatismo/fisiopatologia , Obstrução Nasal/fisiopatologia , Obstrução Nasal/cirurgia , Pólipos Nasais/fisiopatologia , Pólipos Nasais/cirurgia , Septo Nasal/cirurgia , Obesidade/fisiopatologia , Respiração , Transtornos da Articulação Temporomandibular/fisiopatologia
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA