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1.
Artigo em Chinês | MEDLINE | ID: mdl-31446696

RESUMO

Objective:To make the molecular diagnosis of a patient complaining hearing loss and with specific facial features, developmental delay, vertebral dysplasia, hypotonia and other suspected phenotypes of Kabuki make-up syndrome(KS); to investigate the characteristics and main phenotypes of KS. Method:①Whole-exome sequencing and bioinformatics analysis were performed for proband and her parents. ②Literatures describing the clinical features of KS patients with clear molecular diagnosis from the period of Aug 2010 to Mar 2019 were collected from databases of PubMed and CNKI. Result:①The proband carries the c. 15777insT variant(p. Pro5260fs*10) in KMT2D gene. The variant causes the termination codon to appear prematurely. KMT2D c. 15777insT was classified as PVS1+PS1+PM2 according to the ACMG variation interpretation standard, which is a disease-causing mutation. The c. 15777insT was first reported as a pathogenic mutation of KS. ②77 peer-reviewed publications on KS were analysed including 462 patients with KS. The main findings were intellectual disability(305 cases), congenital heart defects(227 cases), hypotonia(184 cases), short fingers(147 cases), short stature(144 cases), cleft palate(139 cases), hearing loss(101 cases) and developmental delay(99 cases). Of the 101 patients with hearing loss, 11 were confirmed to have conductive hearing loss(1 with recurrent otitis media), 3 with mixed hearing loss, 12 with sensorineural deafness(1 with recurrence otitis media) and 75 patients with unidentified types of deafness(28 with recurrent otitis media). Conclusion:KS involves defects of a wide range of organs, with each organ showing different severity of symptoms, which is easily misdiagnosed from the phenotypes. We suggest the diagnosis on hearing loss in KS patients should be strengthened. KMT2D and KDM6A are two pathogenic genes that have been identified for KS. With the increase of age, its typical clinical phenotypes become more and more obvious. When there is only atypical suspected KS symptoms in the early neonatal period, relevant genetic test should be performed as soon as possible to achieve early diagnosis and intervention.


Assuntos
Anormalidades Múltiplas/genética , Proteínas de Ligação a DNA/genética , Face/anormalidades , Perda Auditiva/etiologia , Doenças Hematológicas/complicações , Doenças Hematológicas/genética , Proteínas de Neoplasias/genética , Doenças Vestibulares/complicações , Doenças Vestibulares/genética , Feminino , Humanos , Mutação , Fenótipo
2.
Work ; 63(1): 125-135, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31127750

RESUMO

BACKGROUND: The main function of respiratory protective devices is to provide an intact physical barrier between the environment and the user. To ensure that, a leak-tight fit of the facepiece to the user's face is essential, regardless of the user's individual facial features. OBJECTIVE: The main objective of this study was to assess the possibilities of developing customized respirators well-fitting to the anthropometric dimensions of the user's face using 3D scanning and 3D printing techniques and to evaluate this custom-made device in terms of protective, usage and strength parameters. METHODS: Commercially available twin-filter half-mask type MP22/2 was selected as base model for customization. The 3D scans of the half-mask facepiece were performed using ATOS Core optical 3D scanner. Simultaneously anthropometric measurements of the test subject face were carried out with hand-held 3D scanner Artec EVA. Then digital model of the facepiece was matched to the shape of user's face using Geomagic Touch X haptic device. Customized facepieces were printed out with use of selective laser sintering technique from thermoplastic polyurethane. After assembling, respirators were tested for compliance with the requirements of the European standards. RESULTS: The developed respirators proved to be very well-fitted to the user's face, did not cause any imprints or skin irritations and were assessed positively in terms of protective, usage and strength parameters. CONCLUSIONS: The application of 3D scanning and 3D printing techniques for designing and fabricating customized half-mask facepieces constitutes a viable option for the future development of respiratory protective devices.


Assuntos
Face/anormalidades , Máscaras/normas , Desenho de Prótese/normas , Antropometria/métodos , Desenho de Equipamento/métodos , Desenho de Equipamento/normas , Face/fisiopatologia , Humanos , Projetos Piloto , Impressão Tridimensional/instrumentação , Impressão Tridimensional/tendências , Desenho de Prótese/métodos , Ajuste de Prótese/métodos , Ajuste de Prótese/normas , Dispositivos de Proteção Respiratória/efeitos adversos , Dispositivos de Proteção Respiratória/normas
3.
Cornea ; 38(9): 1182-1184, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30950893

RESUMO

PURPOSE: Kabuki syndrome (KS) is a rare congenital disorder characterized by multiple systemic anomalies and unique facial characteristics. Here, we present the first case, to the best of our knowledge, of bilateral congenital corneal opacities as an early-onset ocular manifestation of KS associated with a KMT2D gene mutation. METHODS: The proband is a girl. At birth, bilateral corneal opacities, short fifth fingers, patent ductus arteriosus, absence of the uvula, and an ectopic kidney on the right side were noted. Ophthalmic examinations revealed vascularized, nonhomogeneous opacities in both corneas; to prevent deprivation amblyopia, bilateral corneal transplantations were performed. RESULTS: At 1 year and 10 months of age, she was referred by a general practitioner to our pediatric endocrinologist for failure to thrive. Genetic analysis at that age revealed the presence of a KMT2D gene mutation, and the patient was diagnosed with KS. CONCLUSIONS: The clinical diagnosis of KS is challenging because the most remarkable facial features are not evident until early childhood. In this case, bilateral congenital corneal opacities were identified as an early-onset ocular manifestation of KS. KS should be considered as a differential diagnosis in patients with bilateral congenital corneal opacities.


Assuntos
Anormalidades Múltiplas/patologia , Opacidade da Córnea/patologia , Face/anormalidades , Doenças Hematológicas/patologia , Doenças Vestibulares/patologia , Anormalidades Múltiplas/genética , Proteínas de Ligação a DNA/genética , Face/patologia , Feminino , Doenças Hematológicas/genética , Humanos , Lactente , Mutação , Proteínas de Neoplasias/genética , Doenças Vestibulares/genética
4.
Indian J Pathol Microbiol ; 62(2): 283-286, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30971556

RESUMO

Cyclopia is a severe form of holoprosencephaly which results in children being born with just one eye, absence of nose and presence of a proboscis above the median eye. Incidence of cyclopia is around 1.05 in 1, 00,000 births, including stillbirths. The association of anencephaly with spinal rachichisis varies from 17-50%. However, the existence of cyclopia with anencephaly and spinal rachischisis has been reported only in 9 cases till date. We report one more case of cyclopia with anencephaly and spinal rachischisis. Awareness of this spectrum of association with cyclopia, albeit rare, will help in early antenatal diagnosis by fetal ultrasonography. Public education and strict adherence to folic acid supplementation can prevent this unfortunate anomaly.


Assuntos
Feto/patologia , Holoprosencefalia/diagnóstico , Disrafismo Espinal/diagnóstico , Adulto , Face/anormalidades , Feminino , Estudos de Associação Genética , Holoprosencefalia/genética , Humanos , Gravidez , Resultado da Gravidez , Disrafismo Espinal/genética
5.
Rev. pediatr. electrón ; 16(1): 18-24, abr. 2019. ilus, tab
Artigo em Espanhol | LILACS | ID: biblio-998476

RESUMO

Resumen Introducción: El síndrome de Alagille es una enfermedad con múltiples afectaciones, es autosómica dominante, con expresividad variable. Se identifica por manifestaciones hepáticas, vertebrales, cardiacas, oculares y dismorfia facial. Objetivo: Reportar un caso de S. de Alagille con afectación hepática, que debuta con hemorragia de vías digestivas altas. Materiales y métodos: Reporte de caso clínico confrontando con artículos de revisiones de temas en búsqueda electrónica en bases de datos de RIMA, MEDLINE, PUBMED, MEDSCAPE, de 1993-2018. Resultado: Paciente de 2 años, con diagnóstico tardío de enfermedad hepática, con progresión a cirrosis y hallazgos al examen físico que confirman Síndrome de Alagille. Se confirma el diagnóstico molecular coincidiendo con el principal hallazgo genético con anomalías asociadas al gen Jagged 1 (JAG1) localizado en el cromosoma 20 y el NOTCH2 del cromosoma 1. Conclusiones: Es de gran importancia resaltar esta patología infrecuente la cual representa un reto diagnóstico, debe tenerse en cuenta la múltiple afectación orgánica por lo cual es fundamental un manejo interdisciplinario


Abstract Introduction: Alagille syndrome is a disease with multiple impairments, is autosomal dominant with variable expressivity. It is identified by manifestations of vertebral, liver, heart, eye and facial dysmorphia. Objective: Report a case of Alagille S. with hepatic involvement, debuting with hemorrhage of upper digestive tract. Materials and methods: Clinical case report confronting articles reviewing subjects in electronic search in RIMA databases, MEDLINE, PUBMED, MEDSCAPE, from 1993-2018. Result: 2 year old patient, with late diagnosis of liver disease, with progression to cirrhosis and physical exam findings that confirm Alagille Syndrome. Confirmed the diagnostic molecular coinciding with the main genetic finding which are anomalies associated with the gene Jagged 1 (JAG1) located on chromosome 20 and the NOTCH2 of chromosome 1. Conclusions: It is important to highlight this uncommon disease which poses a diagnostic challenge, multiple organic involvement must be taken into account by which an interdisciplinary management is essential.


Assuntos
Humanos , Masculino , Pré-Escolar , Síndrome de Alagille/complicações , Síndrome de Alagille/diagnóstico , Hemorragia Gastrointestinal/etiologia , Colestase/diagnóstico , Colestase/etiologia , Síndrome de Alagille/genética , Síndrome de Alagille/terapia , Receptor Notch2 , Face/anormalidades , Proteína Jagged-1 , Cirrose Hepática/diagnóstico , Cirrose Hepática/etiologia
6.
Plast Reconstr Surg ; 143(3): 823-835, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30817656

RESUMO

BACKGROUND: The purposes of this study were to (1) assess complementary fat graft outcomes, (2) compare initial and complementary fat graft retention rates, and (3) evaluate the influence of different postoperative time points (3, 6, and 12 months after the initial procedure) for performing complementary fat grafting on fat graft outcomes. METHODS: A prospective analysis was conducted on patients with unilateral craniofacial contour deformities (n = 115) who underwent initial and complementary fat grafting. Complementary fat grafting was performed 3, 6, or 12 months after the initial fat grafts. Standardized ultrasonographic craniofacial soft-tissue thickness measurements were performed blindly to determine the initial and complementary fat graft retention rates at 1, 3, 6, and 12 months after surgery. RESULTS: A significant (p < 0.05) reduction of fat graft retention was observed within the first 3 postoperative months, and a maintenance of retention (p > 0.05) was observed at 3 through 12 months after surgery for both initial and complementary procedures. No significant (p > 0.05) differences were observed in comparative analysis of the postoperative time points. Complementary retention rates were significantly (p < 0.05) superior to initial retention rates at 3, 6, and 12 months after surgery. Complementary retention rates at 3, 6, and 12 months after surgery were significantly (p < 0.05) superior to initial retention rates for patients aged 18 years or older, those with Parry-Romberg syndrome, those who had undergone previous craniofacial bone surgery, and those with a recipient site at the forehead unit. CONCLUSION: The complementary fat graft retention rates were superior to the initial retention rates, with no significant differences among the postoperative time points for performing complementary procedures. CLINICAL QUESTION/LEVEL OF EVIDENCE: Therapeutic, II.


Assuntos
Tecido Adiposo/transplante , Anormalidades Craniofaciais/cirurgia , Hemiatrofia Facial/cirurgia , Sobrevivência de Enxerto , Procedimentos Cirúrgicos Reconstrutivos/métodos , Reoperação/métodos , Tecido Adiposo/diagnóstico por imagem , Adolescente , Adulto , Face/anormalidades , Face/diagnóstico por imagem , Face/cirurgia , Feminino , Humanos , Masculino , Estudos Prospectivos , Resultado do Tratamento , Ultrassonografia , Adulto Jovem
7.
Eur J Paediatr Neurol ; 23(3): 418-426, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30853297

RESUMO

The human WW Domain Containing Oxidoreductase (WWOX) gene was originally described as a tumor suppressor gene. However, recent reports have demonstrated its cardinal role in the pathogenesis of central nervous systems disorders such as epileptic encephalopathy, intellectual disability, and spinocerebellar ataxia. We report on six patients from three unrelated families of full or partial Yemenite Jewish ancestry exhibiting early infantile epileptic encephalopathy and profound developmental delay. Importantly, four patients demonstrated facial dysmorphism. Exome sequencing revealed that four of the patients were homozygous for a novel WWOX c.517-2A > G splice-site variant and two were compound heterozygous for this variant and a novel c.689A > C, p.Gln230Pro missense variant. Complementary DNA sequencing demonstrated that the WWOX c.517-2A > G splice-site variant causes skipping of exon six. A carrier rate of 1:177 was found among Yemenite Jews. We provide the first detailed description of patients harboring a splice-site variant in the WWOX gene and propose that the clinical synopsis of WWOX related epileptic encephalopathy should be broadened to include facial dysmorphism. The increased frequency of the c.517-2A > G splice-site variant among Yemenite Jews coupled with the severity of the phenotype makes it a candidate for inclusion in expanded preconception screening programs.


Assuntos
Face/anormalidades , Deficiência Intelectual/genética , Espasmos Infantis/genética , Proteínas Supressoras de Tumor/genética , Oxidorredutase com Domínios WW/genética , Feminino , Estudos de Associação Genética , Humanos , Judeus/genética , Masculino , Mutação , Linhagem , Iêmen
9.
Drug Alcohol Depend ; 197: 42-47, 2019 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-30772781

RESUMO

BACKGROUND: High levels of prenatal alcohol exposure are known to cause an array of adverse outcomes including fetal alcohol syndrome (FAS); however, the effects of low to moderate exposure are less-well characterized. Previous findings suggest that differences in normal-range facial morphology may be a marker for alcohol exposure and related adverse effects. METHODS: In the Avon Longitudinal Study of Parents and Children, we tested for an association between maternal alcohol consumption and six FAS-related facial phenotypes in their offspring, using both self-report questionnaires and the maternal genotype at rs1229984 in ADH1B as measures of maternal alcohol consumption. RESULTS: In both self-reported alcohol consumption (N = 4233) and rs1229984 genotype (N = 3139) analyses, we found no strong statistical evidence for an association between maternal alcohol consumption and facial phenotypes tested. The directions of effect estimates were compatible with the known effects of heavy alcohol exposure, but confidence intervals were largely centered around zero. CONCLUSIONS: There is no strong evidence, in a sample representative of the general population, for an effect of prenatal alcohol exposure on normal-range variation in facial morphology.


Assuntos
Face/anormalidades , Transtornos do Espectro Alcoólico Fetal/etiologia , Exposição Materna/efeitos adversos , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Adulto , Álcool Desidrogenase/análise , Consumo de Bebidas Alcoólicas/efeitos adversos , Consumo de Bebidas Alcoólicas/genética , Biomarcadores/análise , Criança , Face/patologia , Feminino , Transtornos do Espectro Alcoólico Fetal/patologia , Genótipo , Humanos , Estudos Longitudinais , Masculino , Fenótipo , Gravidez , Complicações na Gravidez/genética , Complicações na Gravidez/psicologia , Reino Unido
10.
Surg Radiol Anat ; 41(5): 569-574, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30656417

RESUMO

The oro-ocular cleft number 5 according to the Tessier classification is one of the rarest facial clefts and few cases have been reported in the literature. Although the detailed structure of rare craniofacial clefts is well established, the cause of these pathological conditions is not. There are no existing guidelines for the management of this particular kind of cleft. We describe the case of a 19-month-old girl with a complete bilateral facial cleft. We describe the surgical steps taken to achieve the primary correction of the soft tissue deformation. Embryologic development and radiological approach are discussed, as are also the psychological and social aspects of severe facial deformities.


Assuntos
Fissura Palatina/cirurgia , Anormalidades do Olho/cirurgia , Face/anormalidades , Ossos Faciais/anormalidades , Ossos Faciais/cirurgia , Anormalidades da Boca/cirurgia , Fissura Palatina/diagnóstico por imagem , Anormalidades do Olho/diagnóstico por imagem , Ossos Faciais/diagnóstico por imagem , Feminino , Humanos , Lactente , Anormalidades da Boca/diagnóstico por imagem , Tomografia Computadorizada por Raios X
11.
Zhonghua Er Ke Za Zhi ; 57(1): 55-59, 2019 Jan 02.
Artigo em Chinês | MEDLINE | ID: mdl-30630233

RESUMO

Objective: To analyze the clinical and genetic features of immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with a case report and literature review. Methods: The clinical data and genetic test of a girl diagnosed with ICF syndrome in the Department of Nephrology and Immunology in Qingdao Women and Children's Hospital in December 2016 were extracted and analyzed. "ICF syndrome" "immunodeficiency, centromeric instability and facial anomalies syndrome" "ICF syndrome and DNMT3B" were used as key words to search Chinese databases and Pubmed for literature until March 2018, and the literature was reviewed. Results: A female patient aged 22 months old with ocular hypertelorism and low-set ears was admitted due to recurrent infection over one year. Laboratory tests showed humoral immune deficiency with IgG<1.34 g/L, IgA<0.060 g/L, and IgM<0.179 g/L, but normal cellular immunity (total T lymphocyte 0.503, hepler T lymphocyte 0.328, cytotoxic T lymphocyte 0.166, natural killer cell 0.184, total B lymphocyte 0.276). Whole-exome sequencing revealed a de novo heterozygous splice site mutation c.922-2A>G in intron 8, and a de novo heterozygous missense mutation c.2477G>A in exon 23 of DNMT3B gene. Chromosome karyotype analysis showed 46, XX, with 64 out of 100 karyotypes showing centromere instability in chromosome 1. Five papers were found which were all in English, with total of 29 patients. Forty-three mutations were reported, including 34 missense, 2 deletion, 1 insertion, 6 splice site mutations. Eleven patients had complex heterozygosis mutations. All patients had centromere instability, humoral immune deficiency and facial dysplasia which were mainly ocular hypertelorism and low-set ears. Most patients had language and motor development delay, and a few were combined with mental retardation. Conclusions: ICF syndrome is a rare autosomal recessive primary immunodeficiency with classic clinical triad manifestations. De novo mutation of DNMT3B gene is one of etiologies according to genetic test.


Assuntos
Anormalidades Múltiplas , DNA (Citosina-5-)-Metiltransferases , Face , Síndromes de Imunodeficiência , Anormalidades Múltiplas/genética , Centrômero , Instabilidade Cromossômica , DNA (Citosina-5-)-Metiltransferases/genética , Face/anormalidades , Feminino , Humanos , Síndromes de Imunodeficiência/complicações , Síndromes de Imunodeficiência/genética , Lactente , Mutação
12.
Food Chem Toxicol ; 123: 553-560, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30543895

RESUMO

Facial malformations represent one of the most frequent abnormality in humans. The adverse outcome pathway involved in facial defects seems to be related to retinoic acid (RA) pathway imbalance. Environmental agents inducing craniofacial malformations in experimental models include pesticides (especially azole fungicides). By using the in vitro alternative method postimplantation rat whole embryo culture (WEC), we evaluated the intrinsic embryotoxic activity of some azole antifungals (cyproconazole, CYPRO; triadimefon, FON; flusilazole, FLUSI; and prochloraz, PCZ), in comparison to RA. All the tested molecules induced in a dose-related manner specific defects of the craniofacial structures (fused branchial arches), similar to those induced by RA. Collected data were modelled using PROAST 65.5 software to characterise the relative potency factors (RPFs) versus RA. In comparison to RA, all the evaluated azoles were less potent, showing among them a similar potency. Our data suggest a possible azole-related RA signalling perturbation to be further investigated. Moreover, the present results indicate the approach used in this work to be an interesting tool applicable to the hazard evaluation of novel compounds or the assessment of combined exposure to azoles or other dismorphogens.


Assuntos
Azóis/toxicidade , Anormalidades Craniofaciais/etiologia , Fungicidas Industriais/toxicidade , Crânio/efeitos dos fármacos , Animais , Anormalidades Craniofaciais/embriologia , Desenvolvimento Embrionário/efeitos dos fármacos , Face/anormalidades , Face/embriologia , Feminino , Imidazóis/toxicidade , Modelos Logísticos , Masculino , Morfogênese/efeitos dos fármacos , Ratos , Crânio/anormalidades , Crânio/embriologia
13.
Clin Dysmorphol ; 27(4): 126-129, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-29985174

RESUMO

Aneuploidies occur in about 5% of clinically recognized pregnancies. Facial gestalt is a vital tool for the clinical diagnosis of trisomy 21. Facial anomalies are subtle in fetal life and challenging for a clinician not familiar with perinatal dysmorphology. Here, we present the facial profile and additional features in six fetuses with Down syndrome as a visual aid. We present the facial photographs of six fetuses with genetically confirmed trisomy 21. These photographs will serve as a diagnostic aid for trisomy 21 in perinatal dysmorphology. We noted punctate calcifications in two fetuses with trisomy 21.


Assuntos
Anormalidades Craniofaciais/diagnóstico , Síndrome de Down/diagnóstico por imagem , Aneuploidia , Autopsia/métodos , Anormalidades Craniofaciais/etiologia , Síndrome de Down/fisiopatologia , Face/anormalidades , Feminino , Feto , Humanos , Masculino , Gravidez , Trissomia , Ultrassonografia Pré-Natal/métodos
14.
Australas Phys Eng Sci Med ; 41(2): 451-461, 2018 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29717432

RESUMO

Dysmorphic syndromes have different facial malformations. These malformations are significant to an early diagnosis of dysmorphic syndromes and contain distinctive information for face recognition. In this study we define the certain features of each syndrome by considering facial malformations and classify Fragile X, Hurler, Prader Willi, Down, Wolf Hirschhorn syndromes and healthy groups automatically. The reference points are marked on the face images and ratios between the points' distances are taken into consideration as features. We suggest a neural network based hierarchical decision tree structure in order to classify the syndrome types. We also implement k-nearest neighbor (k-NN) and artificial neural network (ANN) classifiers to compare classification accuracy with our hierarchical decision tree. The classification accuracy is 50, 73 and 86.7% with k-NN, ANN and hierarchical decision tree methods, respectively. Then, the same images are shown to a clinical expert who achieve a recognition rate of 46.7%. We develop an efficient system to recognize different syndrome types automatically in a simple, non-invasive imaging data, which is independent from the patient's age, sex and race at high accuracy. The promising results indicate that our method can be used for pre-diagnosis of the dysmorphic syndromes by clinical experts.


Assuntos
Árvores de Decisões , Face/anormalidades , Redes Neurais (Computação) , Algoritmos , Criança , Pré-Escolar , Humanos , Processamento de Imagem Assistida por Computador , Lactente , Síndrome
15.
Brain Dev ; 40(8): 678-684, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29752200

RESUMO

BACKGROUND: Germline mutations of the PTEN gene are responsible for several PTEN hamartoma tumor syndromes. They are also implicated as a cause of macrocephaly and mild to severe developmental delay, regardless of the presence or absence of hamartomas in childhood. Nevertheless, because of limited information, the clinical features present during childhood in patients with a PTEN mutation are yet to be elucidated. METHODS: PTEN mutations were investigated by multiplex targeted sequencing of genomic DNA from 33 children with increased head circumference (>+2 SD) and developmental delay. The clinical features of all the patients with a PTEN mutation were abstracted by dysmorphologists. RESULTS: We have identified six children with a PTEN mutation. Clinical dissection of these six patients, in addition to patient reports in the literature, revealed distinctive facial features that included frontal bossing, dolichocephaly, horizontal eyebrows, and a depressed nasal bridge. Macrocephaly (+3.2 to +6.0 SD) was noticeable compared to their height (-0.8 to +2.1 SD), and the difference in the SD value of head circumference and height was more than 3 SD in all patients. CONCLUSION: The presence of distinctive facies, extreme macrocephaly with normal to mildly high stature, and developmental delay may be useful for identifying patients with a PTEN mutation in childhood. Early identification of patients with a PTEN mutation would help uncover the natural course of tumor development in this group of individuals who have a possible predisposition to cancer, and be important for the development of an optimal surveillance strategy.


Assuntos
Deficiências do Desenvolvimento/genética , Face/anormalidades , Megalencefalia/genética , Mutação , PTEN Fosfo-Hidrolase/genética , Criança , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico por imagem , Feminino , Humanos , Masculino , Megalencefalia/diagnóstico por imagem , Fenótipo
16.
Seizure ; 59: 38-40, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29734022

RESUMO

Terminal deletions of long arm of chromosome 13 are rare and poorly characterized by cytogenetic studies, making for difficult genotype-phenotype correlations. We report two siblings presenting generalized epilepsy, intellectual disability, and genitourinary tract defects. Array CGH detected a 1.3 Mb deletion at 13q34; it contains two protein-coding genes, SOX1 and ARHGEF7, whose haploinsufficiency can contribute to the epileptic phenotype.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 13 , Epilepsia Generalizada/genética , Deficiência Intelectual/genética , Encéfalo/efeitos dos fármacos , Encéfalo/fisiopatologia , Criança , Epilepsia Generalizada/tratamento farmacológico , Epilepsia Generalizada/patologia , Epilepsia Generalizada/fisiopatologia , Face/anormalidades , Humanos , Lactente , Deficiência Intelectual/patologia , Deficiência Intelectual/fisiopatologia , Masculino , Fenótipo , Fatores de Troca de Nucleotídeo Guanina Rho/genética , Fatores de Transcrição SOXB1/genética , Irmãos
17.
Clin Dysmorphol ; 27(3): 71-77, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29683802

RESUMO

In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead, low-set ears, hypertelorism, up-slanting palpebral fissures, almond-shaped eyes, and hypodontia, all leading to the clinical diagnosis of Char syndrome. Genetic analysis showed heterozygosity for the novel variant c.851T>C, p. Leu284Ser in the TFAP2B gene. Family analysis suggested that at least 20 members, extending six generations back, were affected. All 10 members available for genetic testing were heterozygous for the novel pathogenic variant. Qualitative analysis of the facial dysmorphology in the proband and three of the affected family members using three-dimensional surface scanning showed that the major deviations were observed in the forehead/eyebrow, nose, upper lip, and chin regions with, for example, a flattened nose and reduced height of the upper lip and the face. Furthermore, it is suggested that Char syndrome is associated with disturbances of tooth formation and eruption.


Assuntos
Anormalidades Múltiplas/genética , Permeabilidade do Canal Arterial/genética , Face/anormalidades , Dedos/anormalidades , Fator de Transcrição AP-2/genética , Fator de Transcrição AP-2/fisiologia , Pré-Escolar , Face/fisiologia , Assimetria Facial/genética , Família , Feminino , Dedos/fisiologia , Humanos , Hipertelorismo/genética , Masculino
18.
Brain Dev ; 40(7): 566-569, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29678278

RESUMO

BACKGROUND: Coffin-Lowry syndrome is a rare X-linked disease, caused by loss-of-function mutations in the RPS6KA3 gene. Patients exhibit severe intellectual disability with characteristic dysmorphism. As there are no specific laboratory findings to support the diagnosis of Coffin-Lowry syndrome, it may be difficult to diagnose-especially in young children, where the characteristic craniofacial features are less discernible. CASE: Here we report on a 2-year-old boy with Coffin-Lowry syndrome with a novel missense mutation in the RPS6KA3 gene. On magnetic resonance imaging, his brain exhibited periventricular signal abnormalities with multiple small cystic lesions. These findings may aid in diagnosis of Coffin-Lowry syndrome.


Assuntos
Encéfalo/diagnóstico por imagem , Síndrome de Coffin-Lowry/diagnóstico , Síndrome de Coffin-Lowry/genética , Mutação de Sentido Incorreto , Proteínas Quinases S6 Ribossômicas 90-kDa/genética , Pré-Escolar , Síndrome de Coffin-Lowry/patologia , Diagnóstico Diferencial , Face/anormalidades , Humanos , Imagem por Ressonância Magnética , Masculino , Fenótipo
19.
Cytogenet Genome Res ; 154(4): 201-208, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29656294

RESUMO

Ring chromosome 6, r(6), is an extremely rare cytogenetic abnormality with clinical heterogeneity which arises typically de novo. The phenotypes of r(6) can be highly variable, ranging from almost normal to severe malformations and neurological defects. Up to now, only 33 cases have been reported in the literature. In this 10-year follow-up study, we report a case presenting distinctive facial features, severe developmental delay, and gray matter heterotopia with r(6) and terminal deletions of 6p25.3 (115426-384174, 268 kb) and 6q26-27 (168697778-170732033, 2.03 Mb) encompassing 2 and 15 candidate genes, respectively, which were detected using G-banding karyotyping, FISH, and chromosomal microarray analysis. We also analyzed the available information on the clinical features of the reported r(6) cases in order to provide more valuable information on genotype-phenotype correlations. To the best of our knowledge, this is the first report of gray matter heterotopia manifested in a patient with r(6) in China, and the deletions of 6p and 6q in our case are the smallest with the precise size of euchromatic material loss currently known.


Assuntos
Cromossomos Humanos Par 6/genética , Deficiências do Desenvolvimento/genética , Face/anormalidades , Substância Cinzenta/patologia , Deficiência Intelectual/genética , Microcefalia/genética , Cromossomos em Anel , Adulto , Criança , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Microcefalia/patologia , Pessoa de Meia-Idade
20.
Radiographics ; 38(3): 962-980, 2018 May-Jun.
Artigo em Inglês | MEDLINE | ID: mdl-29652578

RESUMO

The human face is a complex anatomic structure with an equally complex embryologic development. Derangement of the developmental process can result in various structural anomalies, which range from a mainly cosmetic deformity, such as cleft lip, to potentially life-threatening conditions such as arhinia. These anomalies (a) can occur as isolated anomalies; (b) can be associated with intracranial, spinal, or dental anomalies; or (c) can be a part of various syndromes, thus serving as diagnostic clues in such cases. Proper evaluation of fetal facial deformities can help in prognostication, family counseling, and prenatal or early postnatal intervention. Ultrasonography (US) is the first line of investigation in these cases. However, when US does not allow complete evaluation of these anomalies owing to its inherent limitations, magnetic resonance (MR) imaging allows comprehensive evaluation of the anomaly itself and also evaluation of various associations and the treatment approach. The embryology of the fetal facial structures is considered with regard to the MR imaging technique and the MR imaging anatomy. The MR imaging features of various structural anomalies are described and classified into six groups, namely, orofacial clefts, orbital anomalies, nasal anomalies, facial masses, external ear anomalies, and abnormal face shape or profile. Also, the key associations and relevant treatment implications are reviewed. The article provides a "one-stop shop" review of these unique disorders-from basic understanding of the embryology to applying the knowledge in clinical practice, helping the interprofessional team and the patients alike. ©RSNA, 2018.


Assuntos
Anormalidades Congênitas/diagnóstico por imagem , Face/anormalidades , Imagem por Ressonância Magnética/métodos , Diagnóstico Pré-Natal/métodos , Diagnóstico Diferencial , Face/embriologia , Feminino , Humanos , Gravidez , Ultrassonografia Pré-Natal
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