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[PMID]:29220674
[Au] Autor:Cuvertino S; Stuart HM; Chandler KE; Roberts NA; Armstrong R; Bernardini L; Bhaskar S; Callewaert B; Clayton-Smith J; Davalillo CH; Deshpande C; Devriendt K; Digilio MC; Dixit A; Edwards M; Friedman JM; Gonzalez-Meneses A; Joss S; Kerr B; Lampe AK; Langlois S; Lennon R; Loget P; Ma DYT; McGowan R; Des Medt M; O'Sullivan J; Odent S; Parker MJ; Pebrel-Richard C; Petit F; Stark Z; Stockler-Ipsiroglu S; Tinschert S; Vasudevan P; Villa O; White SM; Zahir FR; Woolf AS; Banka S; DDD Study
[Ad] Endereço:Division of Evolution and Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine, and Health, The University of Manchester, M13 9PL Manchester, UK.
[Ti] Título:ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
[So] Source:Am J Hum Genet;101(6):1021-1033, 2017 Dec 07.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:ACTB encodes ß-actin, an abundant cytoskeletal housekeeping protein. In humans, postulated gain-of-function missense mutations cause Baraitser-Winter syndrome (BRWS), characterized by intellectual disability, cortical malformations, coloboma, sensorineural deafness, and typical facial features. To date, the consequences of loss-of-function ACTB mutations have not been proven conclusively. We describe heterozygous ACTB deletions and nonsense and frameshift mutations in 33 individuals with developmental delay, apparent intellectual disability, increased frequency of internal organ malformations (including those of the heart and the renal tract), growth retardation, and a recognizable facial gestalt (interrupted wavy eyebrows, dense eyelashes, wide nose, wide mouth, and a prominent chin) that is distinct from characteristics of individuals with BRWS. Strikingly, this spectrum overlaps with that of several chromatin-remodeling developmental disorders. In wild-type mouse embryos, ß-actin expression was prominent in the kidney, heart, and brain. ACTB mRNA expression levels in lymphoblastic lines and fibroblasts derived from affected individuals were decreased in comparison to those in control cells. Fibroblasts derived from an affected individual and ACTB siRNA knockdown in wild-type fibroblasts showed altered cell shape and migration, consistent with known roles of cytoplasmic ß-actin. We also demonstrate that ACTB haploinsufficiency leads to reduced cell proliferation, altered expression of cell-cycle genes, and decreased amounts of nuclear, but not cytoplasmic, ß-actin. In conclusion, we show that heterozygous loss-of-function ACTB mutations cause a distinct pleiotropic malformation syndrome with intellectual disability. Our biological studies suggest that a critically reduced amount of this protein alters cell shape, migration, proliferation, and gene expression to the detriment of brain, heart, and kidney development.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/genética
Actinas/genética
Deficiências do Desenvolvimento/genética
Haploinsuficiência/genética
[Mh] Termos MeSH secundário: Actinas/biossíntese
Adolescente
Adulto
Idoso
Animais
Ciclo Celular/genética
Proliferação Celular/genética
Criança
Pré-Escolar
Códon sem Sentido/genética
Coloboma/genética
Facies
Feminino
Mutação da Fase de Leitura/genética
Deleção de Genes
Seres Humanos
Lactente
Recém-Nascido
Deficiência Intelectual/genética
Masculino
Malformações do Desenvolvimento Cortical/genética
Camundongos
Interferência de RNA
RNA Interferente Pequeno/genética
Adulto Jovem
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (ACTC1 protein, human); 0 (Actins); 0 (Codon, Nonsense); 0 (RNA, Small Interfering)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180222
[Lr] Data última revisão:
180222
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171209
[St] Status:MEDLINE


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[PMID]:29224748
[Au] Autor:Bianchi PM; Bianchi A; Digilio MC; Tucci FM; Sitzia E; De Vincentiis GC
[Ad] Endereço:Surgery Department, Otorhinolaryngology Unit, Bambino Gesù Paediatric Hospital, Scientific Research Institute, 00100 Rome, Italy. Electronic address: piermarco.bianchi@opbg.net.
[Ti] Título:Audiological findings in a de novo mutation of ANKRD11 gene in KBG syndrome: Report of a case and review of the literature.
[So] Source:Int J Pediatr Otorhinolaryngol;103:109-112, 2017 Dec.
[Is] ISSN:1872-8464
[Cp] País de publicação:Ireland
[La] Idioma:eng
[Ab] Resumo:KBG syndrome is a rare genetic disorder, due to a mutation of ANKRD11, characterized by specific craniofacial dysmorphism, short stature and macrodontia of upper central incisors, intellectual disability and skeletal anomalies. We report a de novo mutation of ANKRD11 gene in a 7-years old girl, affected by KBG syndrome with bilateral conductive hearing loss. The aim of this article was to review the audiological findings of this syndrome.
[Mh] Termos MeSH primário: Anormalidades Múltiplas/diagnóstico
Doenças do Desenvolvimento Ósseo/diagnóstico
Perda Auditiva Condutiva/etiologia
Deficiência Intelectual/diagnóstico
Proteínas Repressoras/genética
Anormalidades Dentárias/diagnóstico
[Mh] Termos MeSH secundário: Anormalidades Múltiplas/genética
Audiometria
Doenças do Desenvolvimento Ósseo/complicações
Doenças do Desenvolvimento Ósseo/genética
Criança
Facies
Feminino
Seres Humanos
Deficiência Intelectual/complicações
Deficiência Intelectual/genética
Mutação
Fenótipo
Anormalidades Dentárias/complicações
Anormalidades Dentárias/genética
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (ANKRD11 protein, human); 0 (Repressor Proteins)
[Em] Mês de entrada:1801
[Cu] Atualização por classe:180104
[Lr] Data última revisão:
180104
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:171212
[St] Status:MEDLINE


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[PMID]:29053855
[Au] Autor:Niturad CE; Lev D; Kalscheuer VM; Charzewska A; Schubert J; Lerman-Sagie T; Kroes HY; Oegema R; Traverso M; Specchio N; Lassota M; Chelly J; Bennett-Back O; Carmi N; Koffler-Brill T; Iacomino M; Trivisano M; Capovilla G; Striano P; Nawara M; Rzonca S; Fischer U; Bienek M; Jensen C; Hu H; Thiele H; Altmüller J; Krause R; May P; Becker F; Balling R; Biskup S; Haas SA; Nürnberg P; van Gassen KLI; Lerche H; Zara F; Maljevic S; Leshinsky-Silver E; EuroEPINOMICS Consortium
[Ad] Endereço:Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.
[Ti] Título:Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
[So] Source:Brain;140(11):2879-2894, 2017 Nov 01.
[Is] ISSN:1460-2156
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:Genetic epilepsies are caused by mutations in a range of different genes, many of them encoding ion channels, receptors or transporters. While the number of detected variants and genes increased dramatically in the recent years, pleiotropic effects have also been recognized, revealing that clinical syndromes with various degrees of severity arise from a single gene, a single mutation, or from different mutations showing similar functional defects. Accordingly, several genes coding for GABAA receptor subunits have been linked to a spectrum of benign to severe epileptic disorders and it was shown that a loss of function presents the major correlated pathomechanism. Here, we identified six variants in GABRA3 encoding the α3-subunit of the GABAA receptor. This gene is located on chromosome Xq28 and has not been previously associated with human disease. Five missense variants and one microduplication were detected in four families and two sporadic cases presenting with a range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus. The variants co-segregated mostly but not completely with the phenotype in the families, indicating in some cases incomplete penetrance, involvement of other genes, or presence of phenocopies. Overall, males were more severely affected and there were three asymptomatic female mutation carriers compared to only one male without a clinical phenotype. X-chromosome inactivation studies could not explain the phenotypic variability in females. Three detected missense variants are localized in the extracellular GABA-binding NH2-terminus, one in the M2-M3 linker and one in the M4 transmembrane segment of the α3-subunit. Functional studies in Xenopus laevis oocytes revealed a variable but significant reduction of GABA-evoked anion currents for all mutants compared to wild-type receptors. The degree of current reduction correlated partially with the phenotype. The microduplication disrupted GABRA3 expression in fibroblasts of the affected patient. In summary, our results reveal that rare loss-of-function variants in GABRA3 increase the risk for a varying combination of epilepsy, intellectual disability/developmental delay and dysmorphic features, presenting in some pedigrees with an X-linked inheritance pattern.
[Mh] Termos MeSH primário: Encefalopatias/genética
Fissura Palatina/genética
Deficiências do Desenvolvimento/genética
Epilepsia/genética
Facies
Deficiência Intelectual/genética
Nistagmo Patológico/genética
Receptores de GABA-A/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Animais
Criança
Pré-Escolar
Feminino
Variação Genética
Seres Humanos
Masculino
Microcefalia/genética
Mutagênese Sítio-Dirigida
Oócitos/metabolismo
Técnicas de Patch-Clamp
Linhagem
Receptores de GABA-A/metabolismo
Síndrome
Xenopus laevis
Adulto Jovem
Ácido gama-Aminobutírico/metabolismo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (GABRA3 protein, human); 0 (Receptors, GABA-A); 56-12-2 (gamma-Aminobutyric Acid)
[Em] Mês de entrada:1711
[Cu] Atualização por classe:171107
[Lr] Data última revisão:
171107
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:171021
[St] Status:MEDLINE
[do] DOI:10.1093/brain/awx236


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[PMID]:28943223
[Au] Autor:Cortet-Rudelli C
[Ad] Endereço:CHRU de Lille, hôpital Huriez, service d'endocrinologie, diabétologie et maladies métaboliques, rue Polonowski, 59037 Lille cedex, France. Electronic address: c.cortet@gmail.com.
[Ti] Título:[The mouth of patients with acromegaly].
[Ti] Título:La bouche de l'acromégale..
[So] Source:Presse Med;46(9):831-837, 2017 Sep.
[Is] ISSN:2213-0276
[Cp] País de publicação:France
[La] Idioma:fre
[Ab] Resumo:Orofacial changes are frequent in acromegaly. Their evolution is slowly progressive. The lips (everted and thickened), the mandibular morphology (prognathism), the tongue (macroglossia), the soft palate and the uvula (increased and thickened), the parodontis (gingival hyperplasia, paradontitis), the teeth (increased interdental spaces, hypercementosis, increased dental mobility, multiple tooth loss) are concerned. Functional consequences are significant (obstructive sleep apnea syndrome, malocclusion, pain of the oral maxillofacial area, decrease of the quality of life). They are rarely noticed as the first symptoms of the disease and rarely responsible for the diagnosis of acromegaly because of a progressive development over a long period of time, and because of the low prevalence of the disease which can be unknown by dentists and dental surgeons. When patients are cured or well-controlled, abnormalities of soft tissues improve but are not always completely reversible and bone enlargement remain unchanged. If any corrective surgical procedures are to be performed, this should be carried out only after normalization of GH and IGF I levels.
[Mh] Termos MeSH primário: Acromegalia/diagnóstico
Facies
Doenças da Boca/diagnóstico
Odontopatias/diagnóstico
[Mh] Termos MeSH secundário: Acromegalia/sangue
Acromegalia/complicações
Acromegalia/terapia
Hormônio do Crescimento Humano/sangue
Seres Humanos
Fator de Crescimento Insulin-Like I/metabolismo
Doenças da Boca/sangue
Doenças da Boca/terapia
Prognóstico
Valores de Referência
Odontopatias/sangue
Odontopatias/terapia
[Pt] Tipo de publicação:JOURNAL ARTICLE; REVIEW
[Nm] Nome de substância:
0 (IGF1 protein, human); 12629-01-5 (Human Growth Hormone); 67763-96-6 (Insulin-Like Growth Factor I)
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171013
[Lr] Data última revisão:
171013
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170926
[St] Status:MEDLINE


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[PMID]:28686853
[Au] Autor:Skraban CM; Wells CF; Markose P; Cho MT; Nesbitt AI; Au PYB; Begtrup A; Bernat JA; Bird LM; Cao K; de Brouwer APM; Denenberg EH; Douglas G; Gibson KM; Grand K; Goldenberg A; Innes AM; Juusola J; Kempers M; Kinning E; Markie DM; Owens MM; Payne K; Person R; Pfundt R; Stocco A; Turner CLS; Verbeek NE; Walsh LE; Warner TC; Wheeler PG; Wieczorek D; Wilkens AB; Zonneveld-Huijssoon E; Kleefstra T; Robertson SP; Santani A; van Gassen KLI; Deardorff MA; Deciphering Developmental Disorders Study
[Ad] Endereço:Division of Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
[Ti] Título:WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features.
[So] Source:Am J Hum Genet;101(1):139-148, 2017 Jul 06.
[Is] ISSN:1537-6605
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:We report 15 individuals with de novo pathogenic variants in WDR26. Eleven of the individuals carry loss-of-function mutations, and four harbor missense substitutions. These 15 individuals comprise ten females and five males, and all have intellectual disability with delayed speech, a history of febrile and/or non-febrile seizures, and a wide-based, spastic, and/or stiff-legged gait. These subjects share a set of common facial features that include a prominent maxilla and upper lip that readily reveal the upper gingiva, widely spaced teeth, and a broad nasal tip. Together, these features comprise a recognizable facial phenotype. We compared these features with those of chromosome 1q41q42 microdeletion syndrome, which typically contains WDR26, and noted that clinical features are consistent between the two subsets, suggesting that haploinsufficiency of WDR26 contributes to the pathology of 1q41q42 microdeletion syndrome. Consistent with this, WDR26 loss-of-function single-nucleotide mutations identified in these subjects lead to nonsense-mediated decay with subsequent reduction of RNA expression and protein levels. We derived a structural model of WDR26 and note that missense variants identified in these individuals localize to highly conserved residues of this WD-40-repeat-containing protein. Given that WDR26 mutations have been identified in ∼1 in 2,000 of subjects in our clinical cohorts and that WDR26 might be poorly annotated in exome variant-interpretation pipelines, we would anticipate that this disorder could be more common than currently appreciated.
[Mh] Termos MeSH primário: Facies
Marcha/genética
Haploinsuficiência/genética
Deficiência Intelectual/genética
Proteínas/genética
Convulsões/genética
[Mh] Termos MeSH secundário: Sequência de Aminoácidos
Sequência de Bases
Pré-Escolar
Deleção Cromossômica
Feminino
Crescimento e Desenvolvimento/genética
Seres Humanos
Deficiência Intelectual/complicações
Masculino
Mutação/genética
Proteínas/química
Estabilidade de RNA/genética
Convulsões/complicações
Síndrome
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Proteins); 0 (WDR26 protein, human)
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170802
[Lr] Data última revisão:
170802
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170708
[St] Status:MEDLINE


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[PMID]:28605748
[Au] Autor:Tassano E; Giacomini T; Severino M; Gamucci A; Fiorio P; Gimelli G; Ronchetto P
[Ad] Endereço:Laboratory of Cytogenetics, Giannina Gaslini Institute, Genoa, Italy.
[Ti] Título:Characterization of the Phenotype Associated with Microduplication Reciprocal to NF1 Microdeletion Syndrome.
[So] Source:Cytogenet Genome Res;152(1):22-28, 2017.
[Is] ISSN:1424-859X
[Cp] País de publicação:Switzerland
[La] Idioma:eng
[Ab] Resumo:17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases. Seventeen patients have been reported so far. Here, we present another patient with 17q11.2 duplication and no signs of neurofibromatosis type 1, identified by array-CGH. We compared clinical features and genetic data with those of previously reported patients with 17q11.2 microduplications. We also analyzed the gene content of the duplicated region in order to investigate the possible role of specific genes in the clinical phenotype of our patient.
[Mh] Termos MeSH primário: Duplicação Cromossômica
Anormalidades Craniofaciais/patologia
Deficiência Intelectual/patologia
Transtornos de Aprendizagem/patologia
Neurofibromatoses/patologia
[Mh] Termos MeSH secundário: Encéfalo/patologia
Criança
Deleção Cromossômica
Cromossomos Humanos/genética
Cromossomos Humanos Par 17
Hibridização Genômica Comparativa
Facies
Feminino
Seres Humanos
Lactente
Recém-Nascido
Cariotipagem
Imagem por Ressonância Magnética
Masculino
Fenótipo
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170929
[Lr] Data última revisão:
170929
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170613
[St] Status:MEDLINE
[do] DOI:10.1159/000477292


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[PMID]:28594414
[Au] Autor:Altmüller F; Lissewski C; Bertola D; Flex E; Stark Z; Spranger S; Baynam G; Buscarilli M; Dyack S; Gillis J; Yntema HG; Pantaleoni F; van Loon RL; MacKay S; Mina K; Schanze I; Tan TY; Walsh M; White SM; Niewisch MR; García-Miñaúr S; Plaza D; Ahmadian MR; Cavé H; Tartaglia M; Zenker M
[Ad] Endereço:Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.
[Ti] Título:Genotype and phenotype spectrum of NRAS germline variants.
[So] Source:Eur J Hum Genet;25(7):823-831, 2017 Jun.
[Is] ISSN:1476-5438
[Cp] País de publicação:England
[La] Idioma:eng
[Ab] Resumo:RASopathies comprise a group of disorders clinically characterized by short stature, heart defects, facial dysmorphism, and varying degrees of intellectual disability and cancer predisposition. They are caused by germline variants in genes encoding key components or modulators of the highly conserved RAS-MAPK signalling pathway that lead to dysregulation of cell signal transmission. Germline changes in the genes encoding members of the RAS subfamily of GTPases are rare and associated with variable phenotypes of the RASopathy spectrum, ranging from Costello syndrome (HRAS variants) to Noonan and Cardiofaciocutaneous syndromes (KRAS variants). A small number of RASopathy cases with disease-causing germline NRAS alterations have been reported. Affected individuals exhibited features fitting Noonan syndrome, and the observed germline variants differed from the typical oncogenic NRAS changes occurring as somatic events in tumours. Here we describe 19 new cases with RASopathy due to disease-causing variants in NRAS. Importantly, four of them harbored missense changes affecting Gly12, which was previously described to occur exclusively in cancer. The phenotype in our cohort was variable but well within the RASopathy spectrum. Further, one of the patients (c.35G>A; p.(Gly12Asp)) had a myeloproliferative disorder, and one subject (c.34G>C; p.(Gly12Arg)) exhibited an uncharacterized brain tumour. With this report, we expand the genotype and phenotype spectrum of RASopathy-associated germline NRAS variants and provide evidence that NRAS variants do not spare the cancer-associated mutation hotspots.
[Mh] Termos MeSH primário: Síndrome de Costello/genética
Displasia Ectodérmica/genética
Insuficiência de Crescimento/genética
GTP Fosfo-Hidrolases/genética
Mutação em Linhagem Germinativa
Cardiopatias Congênitas/genética
Proteínas de Membrana/genética
Síndrome de Noonan/genética
[Mh] Termos MeSH secundário: Adolescente
Adulto
Criança
Pré-Escolar
Síndrome de Costello/patologia
Displasia Ectodérmica/patologia
Facies
Insuficiência de Crescimento/patologia
Feminino
Genótipo
Cardiopatias Congênitas/patologia
Seres Humanos
Lactente
Recém-Nascido
Masculino
Mutação de Sentido Incorreto
Síndrome de Noonan/patologia
Fenótipo
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Nm] Nome de substância:
0 (Membrane Proteins); EC 3.6.1.- (GTP Phosphohydrolases); EC 3.6.1.- (NRAS protein, human)
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170928
[Lr] Data última revisão:
170928
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170609
[St] Status:MEDLINE
[do] DOI:10.1038/ejhg.2017.65


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[PMID]:28586842
[Au] Autor:Muggli E; Matthews H; Penington A; Claes P; O'Leary C; Forster D; Donath S; Anderson PJ; Lewis S; Nagle C; Craig JM; White SM; Elliott EJ; Halliday J
[Ad] Endereço:Public Health Genetics, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.
[Ti] Título:Association Between Prenatal Alcohol Exposure and Craniofacial Shape of Children at 12 Months of Age.
[So] Source:JAMA Pediatr;171(8):771-780, 2017 Aug 01.
[Is] ISSN:2168-6211
[Cp] País de publicação:United States
[La] Idioma:eng
[Ab] Resumo:Importance: Children who receive a diagnosis of fetal alcohol spectrum disorder may have a characteristic facial appearance in addition to neurodevelopmental impairment. It is not well understood whether there is a gradient of facial characteristics of children who did not receive a diagnosis of fetal alcohol spectrum disorder but who were exposed to a range of common drinking patterns during pregnancy. Objective: To examine the association between dose, frequency, and timing of prenatal alcohol exposure and craniofacial phenotype in 12-month-old children. Design, Setting, and Participants: A prospective cohort study was performed from January 1, 2011, to December 30, 2014, among mothers recruited in the first trimester of pregnancy from low-risk, public maternity clinics in metropolitan Melbourne, Australia. A total of 415 white children were included in this analysis of 3-dimensional craniofacial images taken at 12 months of age. Analysis was performed with objective, holistic craniofacial phenotyping using dense surface models of the face and head. Partial least square regression models included covariates known to affect craniofacial shape. Exposures: Low, moderate to high, or binge-level alcohol exposure in the first trimester or throughout pregnancy. Main Outcomes and Measures: Anatomical differences in global and regional craniofacial shape between children of women who abstained from alcohol during pregnancy and children with varying levels of prenatal alcohol exposure. Results: Of the 415 children in the study (195 girls and 220 boys; mean [SD] age, 363.0 [8.3] days), a consistent association between craniofacial shape and prenatal alcohol exposure was observed at almost any level regardless of whether exposure occurred only in the first trimester or throughout pregnancy. Regions of difference were concentrated around the midface, nose, lips, and eyes. Directional visualization showed that these differences corresponded to general recession of the midface and superior displacement of the nose, especially the tip of the nose, indicating shortening of the nose and upturning of the nose tip. Differences were most pronounced between groups with no exposure and groups with low exposure in the first trimester (forehead), moderate to high exposure in the first trimester (eyes, midface, chin, and parietal region), and binge-level exposure in the first trimester (chin). Conclusions and Relevance: Prenatal alcohol exposure, even at low levels, can influence craniofacial development. Although the clinical significance of these findings is yet to be determined, they support the conclusion that for women who are or may become pregnant, avoiding alcohol is the safest option.
[Mh] Termos MeSH primário: Bebedeira/patologia
Anormalidades Craniofaciais/induzido quimicamente
Anormalidades Craniofaciais/diagnóstico por imagem
Transtornos do Espectro Alcoólico Fetal/patologia
Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente
[Mh] Termos MeSH secundário: Austrália
Estudos de Coortes
Anormalidades Craniofaciais/patologia
Facies
Feminino
Seres Humanos
Lactente
Masculino
Gravidez
Efeitos Tardios da Exposição Pré-Natal/patologia
Prevalência
Estudos Prospectivos
Crânio/anormalidades
Tomografia Computadorizada por Raios X
[Pt] Tipo de publicação:JOURNAL ARTICLE
[Em] Mês de entrada:1709
[Cu] Atualização por classe:170904
[Lr] Data última revisão:
170904
[Sb] Subgrupo de revista:AIM; IM
[Da] Data de entrada para processamento:170607
[St] Status:MEDLINE
[do] DOI:10.1001/jamapediatrics.2017.0778


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[PMID]:28581541
[Au] Autor:Klecka M; Janas-Kozik M; Jelonek I; Siwiec A; Rybakowski J
[Ad] Endereço:Pracownia Diagnostyki i Terapii Zaburzen Rozwojowych w Ledzinach.
[Ti] Título:Validation of the Polish Version of the Washington 4-Digit Diagnostic Code for the Assessment of Fetal Alcohol Spectrum Disorders.
[Ti] Título:Walidacja polskiej wersji Kwestionariusza Waszyngtonskiego do Oceny Spektrum Poalkoholowych Wrodzonych Zaburzen Rozwojowych..
[So] Source:Psychiatr Pol;51(2):335-347, 2017 Apr 30.
[Is] ISSN:2391-5854
[Cp] País de publicação:Poland
[La] Idioma:eng; pol
[Ab] Resumo:OBJECTIVES: The aim of this paper is a quantitative assessment of FASD facial phenotype in the Polish population using the Polish version of the 4-Digit Diagnostic Code. METHODS: The study covered 2 groups of children: 30 children aged 4-7 and 30 children aged 8-11 with a facial phenotype characteristic for the Fetal Alcohol Syndrome (FAS). The control group consisted of 60 children (4-11 years old) developing normally. We compared 3 facial features (small palpebral fissure lengths, smooth philtrum and thin upper lip). The repeatability, conformity and diagnostic accuracy of particular dysmorphic features of the study were assessed. RESULTS: Obtained values for palpebral fissure were "poor", "good" and "very good", for philtrum "good" and "very good" and for upper lip "good" and "very good". As for conformity, values for palpebral fissure were "moderate" and 'good", for philtrum - "good" and for upper lip also "good". In the experimental group, the FAS diagnostic criteria were met by 13 subjects, partial FAS criteria were met by 37 subjects and the criteria of static encephalopathy with no FAS phenotype were met by 2 subjects. None of the subjects in the control group met these criteria. CONCLUSIONS: The pictorial scale for the assessment of the facial dysmorphic features proved to be a useful tool in the clinical diagnostics of FAS in the Polish conditions. Due to the problems associated with the measurement of the palpebral fissure, it is necessary to verify the normal growth charts for the Polish population.
[Mh] Termos MeSH primário: Consumo de Bebidas Alcoólicas/efeitos adversos
Anormalidades Craniofaciais/diagnóstico
Anormalidades do Olho/diagnóstico
Facies
Transtornos do Espectro Alcoólico Fetal/diagnóstico
[Mh] Termos MeSH secundário: Criança
Pré-Escolar
Codificação Clínica
Feminino
Seres Humanos
Masculino
Fenótipo
Polônia
Valor Preditivo dos Testes
Reprodutibilidade dos Testes
[Pt] Tipo de publicação:JOURNAL ARTICLE; VALIDATION STUDIES
[Em] Mês de entrada:1710
[Cu] Atualização por classe:171023
[Lr] Data última revisão:
171023
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170606
[St] Status:MEDLINE


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[PMID]:28441830
[Au] Autor:Chen JJ; Shi LP
[Ti] Título:[A case of tricho-hepato-enteric syndrome].
[So] Source:Zhonghua Er Ke Za Zhi;55(4):308-309, 2017 Apr 02.
[Is] ISSN:0578-1310
[Cp] País de publicação:China
[La] Idioma:chi
[Mh] Termos MeSH primário: Diarreia Infantil
Facies
Retardo do Crescimento Fetal
Doenças do Cabelo
[Mh] Termos MeSH secundário: Seres Humanos
[Pt] Tipo de publicação:CASE REPORTS; JOURNAL ARTICLE
[Em] Mês de entrada:1708
[Cu] Atualização por classe:170807
[Lr] Data última revisão:
170807
[Sb] Subgrupo de revista:IM
[Da] Data de entrada para processamento:170427
[St] Status:MEDLINE
[do] DOI:10.3760/cma.j.issn.0578-1310.2017.04.015



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