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1.
Int Heart J ; 60(5): 1226-1229, 2019 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-31484871

RESUMO

This paper presents two cases of human hearts (a 75-year-old woman and an 88-year-old man) with double posterior descending arteries (PDA) of various sizes originating from the right coronary artery, mainly supplying the interventricular septum as well as the posterior walls of both heart ventricles in a different scope. In the analysis of the arterial vasculature, a range of aspects were considered, such as the point of exit of the right coronary artery, the course of the vessel, the range of the blood supply of the interventricular septum and both ventricles, as well as selected morphometric parameters that were simultaneously compared with one another. These atypical changes presented based on the example of the analyzed cases will certainly constitute a valuable source of information for cardiac surgeons and interventional cardiologists in planning operations.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anomalias dos Vasos Coronários/diagnóstico , Cardiopatias Congênitas/diagnóstico , Idoso , Idoso de 80 Anos ou mais , Cadáver , Dissecação , Feminino , Humanos , Masculino , Doenças Raras , Septo Interventricular/patologia
2.
Zhonghua Er Ke Za Zhi ; 57(9): 705-709, 2019 Sep 02.
Artigo em Chinês | MEDLINE | ID: mdl-31530357

RESUMO

Objective: To characterize the clinical features and outcomes of scimitar syndrome (SS) to aid the understanding of this syndrome. Methods: This retrospective study included 6 children who were diagnosed with SS at the pediatric cardiovascular center of Beijing Anzhen Hospital from January 2012 to September 2018. SS was diagnosed by echocardiography and confirmed by cardiac computed tomography angiography(CTA) or surgery. All data were collected to analyze the clinical and imaging characteristics and prognosis. Results: Among the 6 SS children (aged 2 months to 15 years; 5 males) weighed 5.6-17.1 kg. Three cases were infant type, the clinical manifestations were recurrent respiratory tract infection with growth retardation, including 2 cases with severe pulmonary hypertension, while 3 cases with adult type, were asymptomatic. Cardiac CTA imaging showed that the right single or all pulmonary veins descended through the diaphragm and converged into the inferior vena cava. One case was isolated infracardiac partial anomalous pulmonary venous connection (PAPVC) without other malformations. The remaining 5 cases complicated with atrial septal defect, different vascular and trachea malformations as well as spinal malformations. Vascular malformations included pulmonary veins stenosis, abnormal origin of pulmonary artery branches, collateral branches of systemic artery supplying local lung tissue, and persistent left superior vena cava. The treatment varied according to the specific location of anomalous pulmonary venous connection, the degree of pulmonary hypertension and the severity of clinical symptoms. Four cases underwent one-stage radical surgery, one case accepted intervention to occlude the collateral artery which was supplying the right lower lung and received stage Ⅱ radical surgery half a year later, and the remaining one case died from pulmonary hypertension crisis preoperation. Conclusions: Isolated SS can easily miss diagnosis due to mild clinical symptoms. Patients with complicated malformations can benefit from combination therapy. SS associated with severe pulmonary hypertension can lead to early death. Therefore, early diagnosis and appropriate treatment can improve the prognosis of patients.


Assuntos
Anormalidades Múltiplas/diagnóstico , Síndrome de Cimitarra/diagnóstico , Adolescente , Criança , Pré-Escolar , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/diagnóstico , Comunicação Interatrial/complicações , Humanos , Lactente , Masculino , Artéria Pulmonar/anormalidades , Veias Pulmonares/anormalidades , Infecções Respiratórias/complicações , Estudos Retrospectivos , Síndrome de Cimitarra/etiologia , Síndrome de Cimitarra/mortalidade , Síndrome de Cimitarra/terapia
3.
Arkh Patol ; 81(4): 48-52, 2019.
Artigo em Russo | MEDLINE | ID: mdl-31407718

RESUMO

OBJECTIVE: To study the trend in the incidence and nosological structure of congenital malformations (CMFs) in the fetuses and babies of the Kyzylorda Region (Aral Sea Region) of the Republic of Kazakhstan in the period 2016-2018. MATERIAL AND METHODS: Over 2016-2018, the investigators analyzed 550 childbirth histories, the protocol (records) of autopsy in fetuses and babies who had died at the maternity hospitals and children's hospitals of the Kyzylorda Region (Aral Sea Region, Kazakhstan). RESULTS: Throughout the follow-up period, the structure of CMFs in the Kyzylorda Region, the Republic of Kazakhstan, was found to have 3 major systemic defects: multiple defects; cardiovascular defects, and central nervous system defects, which can be considered as an indicator for environmental problems in the region. There was a preponderance of hydrocephalus and anencephaly among the CMF of the central nervous system and that of interventricular and interatrial septal defects and combined defects among the cardiovascular CMFs. In the considered period of time, malformations of the urinary system, gastrointestinal tract, and lungs were often observed as part of multiple malformations. In the considered period of time, defects of the urinary system, gastrointestinal tract, and lungs were often observed as part of multiple malformations. The postmortem findings indicated that the conformity of clinical and postmortem CMF diagnoses in the Kyzylorda Region were more than 77%.


Assuntos
Anormalidades Múltiplas , Anormalidades Cardiovasculares , Anormalidades Múltiplas/diagnóstico , Autopsia , Anormalidades Cardiovasculares/diagnóstico , Feto , Humanos , Lactente , Cazaquistão
4.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 36(7): 686-689, 2019 Jul 10.
Artigo em Chinês | MEDLINE | ID: mdl-31302911

RESUMO

OBJECTIVE: To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS). METHODS: Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis. RESULTS: Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins. CONCLUSION: The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.


Assuntos
Anormalidades Múltiplas/genética , Cerebelo/anormalidades , Anormalidades do Olho/genética , Doenças Renais Císticas/genética , Proteínas de Membrana/genética , Retina/anormalidades , Anormalidades Múltiplas/diagnóstico , Anormalidades do Olho/diagnóstico , Humanos , Doenças Renais Císticas/diagnóstico , Mutação , Linhagem , Sequenciamento Completo do Exoma
5.
J Cardiothorac Surg ; 14(1): 113, 2019 Jun 20.
Artigo em Inglês | MEDLINE | ID: mdl-31221172

RESUMO

BACKGROUND: Extralobar sequestration is a rare congenital malformation of lung tissue, which can be combined with other foregut and cardiac abnormalities. Our case is the first to report extralobar sequestration, absence of pericardium and atrial septal defect in the same patient. CASE PRESENTATION: A 22-year-old female with atrial septal defect came for her recent atypical symptom of intermittent palpitation and shortness of breath. Her computed tomography showed a cystic mass located in left superior anterior mediastinum near the pulmonary trunk. With specious of cystic teratoma prior to video-assisted thoracoscopic surgery, she finally was diagnosed as extralobar sequestration, while incidentally found with congenital absence of pericardium during surgery. CONCLUSIONS: Extralobar sequestration, absence of pericardium and atrial septal defect can occur in the same patient. The preoperative diagnostic rate of extralobar sequestration and asymptomatic absence of pericardium remains low attributed to atypical imaging features. A cardiac magnetic resonance imaging is highly recommended if necessary. Regular follow-up is essential to asymptomatic absence of pericardium and atrial septal defect patients. To patients with extralobar sequestration, an operation could be performed.


Assuntos
Sequestro Broncopulmonar/diagnóstico , Comunicação Interatrial/diagnóstico , Neoplasias do Mediastino/diagnóstico , Pericárdio/anormalidades , Teratoma/diagnóstico , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/cirurgia , Sequestro Broncopulmonar/complicações , Sequestro Broncopulmonar/diagnóstico por imagem , Sequestro Broncopulmonar/cirurgia , Diagnóstico Diferencial , Feminino , Comunicação Interatrial/complicações , Comunicação Interatrial/diagnóstico por imagem , Comunicação Interatrial/cirurgia , Humanos , Imagem por Ressonância Magnética , Neoplasias do Mediastino/complicações , Neoplasias do Mediastino/diagnóstico por imagem , Neoplasias do Mediastino/cirurgia , Teratoma/complicações , Teratoma/diagnóstico por imagem , Teratoma/cirurgia , Cirurgia Torácica Vídeoassistida , Tomografia Computadorizada por Raios X , Adulto Jovem
6.
BMJ Case Rep ; 12(5)2019 May 08.
Artigo em Inglês | MEDLINE | ID: mdl-31068350

RESUMO

Multiple pterygium syndrome of lethal type is a very rare genetic condition affecting the skin, muscles and skeleton. It is characterised by minor facial abnormalities, prenatal growth deficiency, spine defects, joint contractures, and webbing (pterygia) of the neck, elbows, back of the knees, armpits and fingers. We present a case of lethal multiple pterygium syndrome born at our hospital proven by the genetic analysis showing a double homozygous mutation.


Assuntos
Anormalidades Múltiplas/genética , Hipertermia Maligna/diagnóstico , Hipertermia Maligna/genética , Metaloendopeptidases/genética , Mutação , Receptores Nicotínicos/genética , Anormalidades da Pele/diagnóstico , Anormalidades da Pele/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/fisiopatologia , Consanguinidade , Análise Mutacional de DNA , Suscetibilidade a Doenças , Evolução Fatal , Aconselhamento Genético , Heterogeneidade Genética , Humanos , Recém-Nascido , Masculino , Hipertermia Maligna/fisiopatologia , Linhagem , Anormalidades da Pele/fisiopatologia
7.
Semin Pediatr Surg ; 28(2): 111-114, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31072458

RESUMO

Omphaloceles are ventral abdominal wall defects that are associated with significant other anomalies in up to 80% of cases in some descriptions. Of these abnormalities, Cardiac defects are some of the more common ones, and have the most substantial impact on outcomes and survival. In cases with a severe congenital heart defect (CHD), the omphalocele management changes significantly. This article addresses the common defects seen, and their management issues.


Assuntos
Anormalidades Múltiplas , Cardiopatias Congênitas , Hérnia Umbilical , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/embriologia , Anormalidades Múltiplas/cirurgia , Procedimentos Cirúrgicos Cardíacos/métodos , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/embriologia , Cardiopatias Congênitas/cirurgia , Hérnia Umbilical/diagnóstico , Hérnia Umbilical/embriologia , Hérnia Umbilical/cirurgia , Herniorrafia/métodos , Humanos , Recém-Nascido
8.
Semin Pediatr Surg ; 28(2): 115-117, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31072459

RESUMO

The respiratory difficulties experienced by infants with omphalocele are being appreciated with greater frequency. These problems represent self-limited difficulties related to omphalocele closure or are the result of severe pulmonary disease including pulmonary hypoplasia and pulmonary hypertension. Infants with giant omphalocele represent a unique group that may experience increased respiratory morbidity which may lead to chronic respiratory problems extending into childhood and adolescence. Importantly, respiratory insufficiency at birth is an independent predictor of mortality for patients with omphalocele. In this review, we will provide a summary of the respiratory difficulties experienced by patients with omphalocele as well as insight into management and surveillance.


Assuntos
Hérnia Umbilical/complicações , Insuficiência Respiratória/etiologia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/terapia , Doença Crônica , Hérnia Umbilical/diagnóstico , Hérnia Umbilical/terapia , Humanos , Hipertensão Pulmonar/complicações , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/terapia , Recém-Nascido , Pulmão/anormalidades , Insuficiência Respiratória/diagnóstico , Insuficiência Respiratória/terapia
9.
J Genet ; 982019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30945692

RESUMO

A parental diagnosis was performed for an unborn foetus of a healthy couple, who was due for ultrasound detection of multiple malformations and abnormal amniotic fluid karyotypes. For an accurate diagnosis, routine G-banding analysis and next generation sequencing (NGS) were carried out. Finally, conventional cytogenetic analysis suggested that the foetus had a karyotype of47,XX,+mar[52]/46,XN, meanwhile NGS also revealed a partial tetrasomy of 27.84Mb from 4q26-q31.21 (117,385,735-145,225,759), and G-banding analysis excluded the couple to have carried the 4q26-q31.21 duplication. We have identified a de novo mosaic small supernumerary marker chromosomes (sSMC) derived from 4q26-q31.21 in a foetus with hemivertebra, polydactyly, abnormal ears, and heart and ventricular septal defect.


Assuntos
Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Cromossomos Humanos Par 4/genética , Feto/patologia , Marcadores Genéticos , Diagnóstico Pré-Natal , Tetrassomia , Adulto , Análise Citogenética , Feminino , Feto/metabolismo , Humanos , Masculino , Mosaicismo , Gravidez
10.
Medicina (Kaunas) ; 55(3)2019 Mar 25.
Artigo em Inglês | MEDLINE | ID: mdl-30934652

RESUMO

The term congenital hypopigmentary disorders refers to a wide group of heterogeneous hereditary diseases, clinically characterized by inborn pigmentary defects of the iris, hair, and/or skin. They include Gray Hair Syndromes (GHSs), a rare group of autosomal recessive genodermatosis hallmarked by inborn silvery gray hair. GHSs encompass Griscelli, Chediak⁻Higashi, Elejalde, and Cross syndromes, which are all characterized by a broad spectrum of severe multisystem disorders, including neurological, ocular, skeletal, and immune system impairment. In this manuscript, we describe in detail the clinical, trichoscopic, and genetic features of a rare case of Griscelli syndrome; moreover, we provide an overview of all the GHSs known to date. Our report highlights how an accurate clinical examination with noninvasive methods, like trichoscopy, may play a crucial rule in diagnosis of rare and potentially lethal genetic syndromes such as Griscelli syndrome, in which timely diagnosis and therapy may modify the clinical course, quality of life, and likelihood of survival.


Assuntos
Transtornos da Pigmentação/diagnóstico , Transtornos da Pigmentação/genética , Doenças Raras/diagnóstico , Doenças Raras/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/imunologia , Anormalidades Múltiplas/patologia , Adulto , Síndrome de Chediak-Higashi/diagnóstico , Síndrome de Chediak-Higashi/genética , Síndrome de Chediak-Higashi/imunologia , Síndrome de Chediak-Higashi/patologia , Pré-Escolar , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/genética , Anormalidades Craniofaciais/imunologia , Anormalidades Craniofaciais/patologia , Diagnóstico Diferencial , Feminino , Cabelo/anormalidades , Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Perda Auditiva Neurossensorial/imunologia , Perda Auditiva Neurossensorial/patologia , Humanos , Hipertricose/induzido quimicamente , Iris/anormalidades , Masculino , Mutação , Síndromes Neurocutâneas/diagnóstico , Síndromes Neurocutâneas/genética , Síndromes Neurocutâneas/imunologia , Síndromes Neurocutâneas/patologia , Piebaldismo/diagnóstico , Piebaldismo/genética , Piebaldismo/imunologia , Piebaldismo/patologia , Transtornos da Pigmentação/imunologia , Transtornos da Pigmentação/patologia , Qualidade de Vida , Doenças Raras/imunologia , Doenças Raras/patologia , Anormalidades da Pele , Proteínas rab27 de Ligação ao GTP/genética
12.
BMJ Case Rep ; 12(4)2019 Apr 23.
Artigo em Inglês | MEDLINE | ID: mdl-31015250

RESUMO

Joubert syndrome (JS) and JS-related disorders are a group of developmental delay, multiple congenital anomalies and complex midbrain-hindbrain malformations. A few cases of JS with multiple pituitary hormone deficiency (MPHD) have been reported in literature. Here, we presented an unusual presentation of JS in a newborn with MPHD. This case is intended to draw attention to the rare association of JS and MDPH by increasing the awareness of this syndrome.


Assuntos
Cerebelo/anormalidades , Anormalidades do Olho/complicações , Terapia de Reposição Hormonal/métodos , Doenças Renais Císticas/complicações , Hormônios Hipofisários/deficiência , Retina/anormalidades , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/tratamento farmacológico , Anormalidades Múltiplas/etiologia , Anormalidades Múltiplas/genética , Assistência ao Convalescente , Encéfalo/diagnóstico por imagem , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/etiologia , Deficiências do Desenvolvimento/genética , Diagnóstico Diferencial , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/tratamento farmacológico , Doenças dos Genitais Masculinos/diagnóstico , Doenças dos Genitais Masculinos/etiologia , Humanos , Hipoglicemia/diagnóstico , Hipoglicemia/etiologia , Recém-Nascido , Doenças Renais Císticas/diagnóstico , Doenças Renais Císticas/tratamento farmacológico , Imagem por Ressonância Magnética , Masculino , Pênis/anormalidades , Hormônios Hipofisários/metabolismo , Esteroides/administração & dosagem , Esteroides/uso terapêutico , Resultado do Tratamento
13.
J Ayub Med Coll Abbottabad ; 31(1): 136-137, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30868801

RESUMO

Megacystis microcolon intestinal hypoperistalsis syndrome also known as Berdon syndrome is characterized by enlarged urinary bladder, small colon and reduced or absent intestinal peristalsis. We report a case of 4 days old female suffering from MMIHS presenting with tension pneumoperitoneum. To the best of our knowledge, this is the first reported case of MMIHS, having this unusual presentation.


Assuntos
Anormalidades Múltiplas , Colo/anormalidades , Pseudo-Obstrução Intestinal , Pneumoperitônio , Bexiga Urinária/anormalidades , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/cirurgia , Colo/cirurgia , Evolução Fatal , Feminino , Humanos , Recém-Nascido , Pseudo-Obstrução Intestinal/complicações , Pseudo-Obstrução Intestinal/diagnóstico , Pseudo-Obstrução Intestinal/cirurgia , Pneumoperitônio/etiologia , Pneumoperitônio/cirurgia , Bexiga Urinária/cirurgia
14.
Medicine (Baltimore) ; 98(10): e14782, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30855488

RESUMO

RATIONALE: Clinical and genetic management of patients with rare syndromes is often a difficult, confusing, and slow task. PATIENT CONCERNS: Male child patient with a multisystemic disease showing congenital heart defects, facial dysmorphism, skeletal malformations, and eye anomalies. DIAGNOSIS: The patient remained clinically undiagnosed until the genetic results were conclusive and allowed to associate its clinical features with the germline ABL1 mutations-associated syndrome. INTERVENTIONS: We performed whole-exome sequencing to uncover the underlying genetic defect in this patient. Subsequently, family segregation of identified mutations was performed by Sanger sequencing in all available family members. OUTCOMES: The only detected variant compatible with the disease was a novel heterozygous nonframeshift de novo deletion in ABL1 (c.434_436del; p.Ser145del). The affected residue lays in a functional domain of the protein, it is highly conserved among distinct species, and its loss is predicted as pathogenic by in silico studies. LESSONS: Our results reinforce the involvement of ABL1 in clinically undiagnosed cases with developmental defects and expand the clinical and genetic spectrum of the recently reported ABL1-associated syndrome. In this sense, we described the third germline ABL1 causative mutation and linked, for the first time, ocular anterior chamber anomalies to this pathology. Thus, we suggest that this disorder may be more heterogeneous than is currently believed and may be overlapping with other multisystemic diseases, hence genetic and clinical reassessment of this type of cases should be considered to ensure proper diagnosis.


Assuntos
Anormalidades Múltiplas/genética , Mutação em Linhagem Germinativa , Proteínas Proto-Oncogênicas c-abl/genética , Anormalidades Múltiplas/diagnóstico , Diagnóstico Diferencial , Humanos , Lactente , Masculino , Fenótipo , Síndrome
15.
EBioMedicine ; 42: 43-53, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30898653

RESUMO

BACKGROUND: Noonan syndrome (NS) is a genetic disorder characterized by short stature, a distinctive facial appearance, and heart defects. We recently discovered a novel NS gene, RIT1, which is a member of the RAS subfamily of small GTPases. NS patients with RIT1 mutations have a high incidence of hypertrophic cardiomyopathy and edematous phenotype, but the specific role of RIT1 remains unclear. METHODS: To investigate how germline RIT1 mutations cause NS, we generated knock-in mice that carried a NS-associated Rit1 A57G mutation (Rit1A57G/+). We investigated the phenotypes of Rit1A57G/+ mice in fetal and adult stages as well as the effects of isoproterenol on cardiac function in Rit1A57G/+ mice. FINDINGS: Rit1A57G/+ embryos exhibited decreased viability, edema, subcutaneous hemorrhage and AKT activation. Surviving Rit1A57G/+ mice had a short stature, craniofacial abnormalities and splenomegaly. Cardiac hypertrophy and cardiac fibrosis with increased expression of S100A4, vimentin and periostin were observed in Rit1A57G/+ mice compared to Rit1+/+ mice. Upon isoproterenol stimulation, cardiac fibrosis was drastically increased in Rit1A57G/+ mice. Phosphorylated (at Thr308) AKT levels were also elevated in isoproterenol-treated Rit1A57G/+ hearts. INTERPRETATION: The A57G mutation in Rit1 causes cardiac hypertrophy, fibrosis and other NS-associated features. Biochemical analysis indicates that the AKT signaling pathway might be related to downstream signaling in the RIT1 A57G mutant at a developmental stage and under ß-adrenergic stimulation in the heart. FUND: The Grants-in-Aid were provided by the Practical Research Project for Rare/Intractable Diseases from the Japan Agency for Medical Research and Development, the Japan Society for the Promotion of Science KAKENHI Grant.


Assuntos
Cardiomegalia/etiologia , Cardiomegalia/patologia , Mutação , Síndrome de Noonan/complicações , Síndrome de Noonan/genética , Proteínas ras/genética , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Agonistas Adrenérgicos beta , Alelos , Animais , Cardiomegalia/diagnóstico , Modelos Animais de Doenças , Ecocardiografia , Feminino , Fibrose , Estudos de Associação Genética , Loci Gênicos , Mutação em Linhagem Germinativa , Testes de Função Cardíaca , Imuno-Histoquímica , Estimativa de Kaplan-Meier , Masculino , Camundongos , Camundongos Transgênicos , Síndrome de Noonan/diagnóstico , Síndrome de Noonan/mortalidade , Fenótipo , Proteínas Proto-Oncogênicas c-akt/metabolismo , Transdução de Sinais
16.
Indian J Pathol Microbiol ; 62(1): 149-152, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30706883

RESUMO

NeuLaxova syndrome (NLS) is a rare congenital abnormality involving multiple systems. Until date, only 60 cases of this syndrome have been reported in the literature. A stillborn fetus from a 23-year-old female with bad obstetrics history and consanguinity marriage, presented at 41 weeks gestation and not appreciating fetal movements for the past 3 days. Ultrasound examination revealed the absence of fetal cardiac activity and features of growth retardation. The fetus was sent for pathological examination. At autopsy, fetus had ichthyosis over the scalp and face, depressed nasal bridge, low set ears, microcephaly, slopping forehead, wide interdigital spaces, edema of hands and feet, hypoplastic penis, right leg showed congenital talipes equinovarus and left leg showed rocker bottom foot. On dissection, all organs were in situ. Both lungs were hypoplastic, brain was atrophied, and heart showed right ventricle hypertrophied. A diagnosis of NLS was made. Genetic counseling and early serial ultrasound examination should be performed at high-risk families because of its autosomal recessive mode of inheritance. Early diagnosis of the disease may offer termination of the pregnancy as an option. The prognosis is poor, and the affected newborns are either stillborn or die immediately after birth.


Assuntos
Anormalidades Múltiplas/diagnóstico , Encefalopatias/diagnóstico , Retardo do Crescimento Fetal/diagnóstico , Feto/patologia , Transtornos do Crescimento/congênito , Ictiose/diagnóstico , Deformidades Congênitas dos Membros/diagnóstico , Microcefalia/diagnóstico , Encéfalo/patologia , Encefalopatias/congênito , Consanguinidade , Face/patologia , Feminino , Idade Gestacional , Transtornos do Crescimento/diagnóstico , Humanos , Recém-Nascido , Cariotipagem , Microcefalia/etiologia , Pais , Gravidez , Fatores de Risco , Natimorto , Adulto Jovem
18.
Lancet ; 393(10173): 758-767, 2019 02 23.
Artigo em Inglês | MEDLINE | ID: mdl-30712878

RESUMO

BACKGROUND: Identification of chromosomal aneuploidies and copy number variants that are associated with fetal structural anomalies has substantial value. Although whole-exome sequencing (WES) has been applied to case series of a few selected prenatal cases, its value in routine clinical settings has not been prospectively assessed in a large unselected cohort of fetuses with structural anomalies. We therefore aimed to determine the incremental diagnostic yield (ie, the added value) of WES following uninformative results of standard investigations with karyotype testing and chromosomal microarray in an unselected cohort of sequential pregnancies showing fetal structural anomalies. METHODS: In this prospective cohort study, the parents of fetuses who were found to have a structural anomaly in a prenatal ultrasound were screened for possible participation in the study. These participants were predominantly identified in or were referred to the Columbia University Carmen and John Thain Center for Prenatal Pediatrics (New York, NY, USA). Fetuses with confirmed aneuploidy or a causal pathogenic copy number variant were excluded from WES analyses. By use of WES of the fetuses and parents (parent-fetus trios), we identified genetic variants that indicated an underlying cause (diagnostic genetic variants) and genetic variants that met the criteria of bioinformatic signatures that had previously been described to be significantly enriched among diagnostic genetic variants. FINDINGS: Between April 24, 2015, and April 19, 2017, 517 sequentially identified pregnant women found to have fetuses with a structural anomaly were screened for their eligibility for inclusion in our study. 71 (14%) couples declined testing, 87 (17%) trios were missing at least one DNA sample (from either parent or the fetus), 69 (13%) trios had a clinically relevant abnormal karyotype or chromosomal microarray finding, 51 (10%) couples did not consent to WES or withdrew consent, and five (1%) samples were not of good enough quality for analysis. DNA samples from 234 (45%) eligible trios were therefore used for analysis of the primary outcome. By use of trio sequence data, we identified diagnostic genetic variants in 24 (10%) families. Mutations with bioinformatic signatures that were indicative of pathogenicity but with insufficient evidence to be considered diagnostic were also evaluated; 46 (20%) of the 234 fetuses assessed were found to have such signatures. INTERPRETATION: Our analysis of WES data in a prospective cohort of unselected fetuses with structural anomalies shows the value added by WES following the use of routine genetic tests. Our findings suggest that, in cases of fetal anomalies in which assessment with karyotype testing and chromosomal microarray fail to determine the underlying cause of a structural anomaly, WES can add clinically relevant information that could assist current management of a pregnancy. The unique challenges of WES-based prenatal diagnostics require analysis by a multidisciplinary team of perinatal practitioners and laboratory specialists. FUNDING: Institute for Genomic Medicine (Columbia University Irving Medical Center).


Assuntos
Cariótipo Anormal/embriologia , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Aneuploidia , Variações do Número de Cópias de DNA/genética , Desenvolvimento Fetal/genética , Feto/anormalidades , Sequenciamento Completo do Exoma/estatística & dados numéricos , Anormalidades Múltiplas/epidemiologia , Amniocentese , Amostra da Vilosidade Coriônica , Feminino , Triagem de Portadores Genéticos , Humanos , Masculino , Gravidez , Estudos Prospectivos , Ultrassonografia Pré-Natal , Sequenciamento Completo do Exoma/métodos
19.
Ann Thorac Surg ; 108(2): e105-e106, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30710524

RESUMO

Truncus arteriosus with the absence of one branching pulmonary artery and presence of major aortopulmonary collateral arteries is rare. A small patient, with a birth weight of 2,219 g, was successfully repaired by a staged approach, after banding of the left pulmonary artery and unifocalization of major aortopulmonary collateral arteries.


Assuntos
Anormalidades Múltiplas/diagnóstico , Aorta Torácica/anormalidades , Circulação Colateral , Artéria Pulmonar/anormalidades , Persistência do Tronco Arterial/diagnóstico , Anormalidades Múltiplas/cirurgia , Aorta Torácica/diagnóstico por imagem , Aorta Torácica/cirurgia , Aortografia , Procedimentos Cirúrgicos Cardíacos/métodos , Humanos , Recém-Nascido , Masculino , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/cirurgia , Tomografia Computadorizada por Raios X , Persistência do Tronco Arterial/cirurgia , Procedimentos Cirúrgicos Vasculares/métodos
20.
Z Geburtshilfe Neonatol ; 223(1): 15-25, 2019 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-30791067

RESUMO

Oesophageal atresia causes a dysplasia of the oesophagus with or without a connection to the adjoining trachea. Prenatal ultrasound results are not specific enough to confirm a suspected diagnosis. In addition to polyhydramnios and a small or absent stomach, the so-called "pouch sign" reinforces the suspected diagnosis. An MRI increases the prenatal detection rate. Due to the lack of reliable sonografic markers, ultrasonic testing is advised during pregnancy. Particularly, further causes for the polyhydramnios should be categorically excluded. Postnatally, children present with classic symptoms. Surgical treatment results in a very high quality of life and a very good prognosis. Nevertheless lifelong monitoring and follow-up of the patient is required.


Assuntos
Atresia Esofágica/diagnóstico , Atresia Esofágica/cirurgia , Cuidado Pré-Natal , Diagnóstico Pré-Natal , Anormalidades Múltiplas/classificação , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/cirurgia , Atresia Esofágica/classificação , Feminino , Humanos , Poli-Hidrâmnios/diagnóstico , Poli-Hidrâmnios/cirurgia , Cuidados Pós-Operatórios , Gravidez , Fístula Traqueoesofágica/congênito , Fístula Traqueoesofágica/diagnóstico , Fístula Traqueoesofágica/cirurgia , Resultado do Tratamento , Ultrassonografia Pré-Natal
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