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Ultrasound in Obstetrics & Gynecology :... Oct 2001
Topics: Congenital Abnormalities; Europe; Female; Humans; Mass Screening; Pregnancy; Ultrasonography, Prenatal
PubMed: 11778985
DOI: 10.1046/j.0960-7692.2001.00555.x -
American Journal of Medical Genetics.... Nov 2009Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of... (Review)
Review
Joubert syndrome (JBTS; OMIM 213300) is a rare, autosomal recessive disorder characterized by a specific congenital malformation of the hindbrain and a broad spectrum of other phenotypic findings that is now known to be caused by defects in the structure and/or function of the primary cilium. The complex hindbrain malformation that is characteristic of JBTS can be identified on axial magnetic resonance imaging and is known as the molar tooth sign (MTS); other diagnostic criteria include intellectual disability, hypotonia, and often, abnormal respiratory pattern and/or abnormal eye movements. In addition, a broad spectrum of other anomalies characterize Joubert syndrome and related disorders (JSRD), and may include retinal dystrophy, ocular coloboma, oral frenulae and tongue tumors, polydactyly, cystic renal disease (including cystic dysplasia or juvenile nephronophthisis), and congenital hepatic fibrosis. The clinical course can be variable, but most children with this condition survive infancy to reach adulthood. At least eight genes cause JSRD, with some genotype-phenotype correlations emerging, including the association between mutations in the MKS3 gene and hepatic fibrosis characteristic of the JSRD subtype known as COACH syndrome. Several of the causative genes for JSRD are implicated in other ciliary disorders, such as juvenile nephronophthisis and Meckel syndrome, illustrating the close association between these conditions and their overlapping clinical features that reflect a shared etiology involving the primary cilium.
Topics: Abnormalities, Multiple; Adolescent; Brain; Child; Child, Preschool; Cilia; Ciliary Motility Disorders; Congenital Abnormalities; Developmental Disabilities; Female; Genes, Recessive; Genotype; Humans; Infant; Male; Pregnancy; Prenatal Diagnosis; Syndrome
PubMed: 19876931
DOI: 10.1002/ajmg.c.30229 -
British Medical Journal (Clinical...
Topics: Abortion, Induced; Congenital Abnormalities; Ethics, Medical; Euthanasia; Euthanasia, Passive; Female; Humans; Infant, Newborn; Pregnancy; Prenatal Diagnosis
PubMed: 6797587
DOI: No ID Found -
Annals of Medicine 2007Congenital diaphragmatic hernia (CDH) is a severe birth defect that is accompanied by malformations of the lung, heart, testis, and other organs. Patients with CDH may... (Review)
Review
Congenital diaphragmatic hernia (CDH) is a severe birth defect that is accompanied by malformations of the lung, heart, testis, and other organs. Patients with CDH may have any combination of these extradiaphragmatic defects, suggesting that CDH is often a manifestation of a global embryopathy. This review highlights recent advances in human and mouse genetics that have led to the identification of genes involved in CDH. These include genes for transcription factors, molecules involved in cell migration, and extracellular matrix components. The expression patterns of these genes in the developing embryo suggest that mesenchymal cell function is compromised in the diaphragm and other affected organs in patients with CDH. We discuss potential mechanisms underlying the seemingly random combination of diaphragmatic, pulmonary, cardiovascular, and gonadal defects in these patients.
Topics: Animals; Congenital Abnormalities; Diaphragm; Hernia, Diaphragmatic; Hernias, Diaphragmatic, Congenital; Humans; Infant, Newborn; Mice; Mutation; Transcription Factors
PubMed: 17558598
DOI: 10.1080/07853890701326883 -
Journal of Perinatal Medicine Nov 2018
Topics: Aneuploidy; Congenital Abnormalities; Female; Humans; Pregnancy; Prenatal Diagnosis
PubMed: 30422803
DOI: 10.1515/jpm-2018-0333 -
Human Mutation May 2012Abnormal phenotypes have played significant roles in the discovery of gene function, but organized collection of phenotype data has been overshadowed by developments in... (Review)
Review
Abnormal phenotypes have played significant roles in the discovery of gene function, but organized collection of phenotype data has been overshadowed by developments in sequencing technology. In order to study phenotypes systematically, large-scale projects with standardized objective assessment across populations are considered necessary. The report of the 2006 Human Variome Project meeting (Cotton et al, 2007) recommended documentation of phenotypes through electronic means by collaborative groups of computational scientists and clinicians using standard, structured descriptions of disease-specific phenotypes. In this report, we describe progress over the past decade in three-dimensional (3D) digital imaging and shape analysis of the face, and future prospects for large-scale facial phenotyping. Illustrative examples are given throughout using a collection of 1,107 3D face images of healthy controls and individuals with a range of genetic conditions involving facial dysmorphism.
Topics: Algorithms; Anthropometry; Congenital Abnormalities; Face; Humans; Imaging, Three-Dimensional; Models, Biological; Phenotype; Reference Standards
PubMed: 22434506
DOI: 10.1002/humu.22054 -
BMC Medical Genomics Oct 2023Whole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to evaluate the diagnostic value of...
BACKGROUND
Whole-exome sequencing (WES) significantly improves the diagnosis of the etiology of fetal structural anomalies. This study aims to evaluate the diagnostic value of prenatal WES and to investigate the pathogenic variants in structurally abnormal fetuses.
METHODS
We recruited 144 fetuses with structural anomalies between 14 and 2020 and 15 December 2021 in the study. Genetic screening was performed by WES combined with karyotyping and chromosomal microarray analysis. The molecular diagnostic yield of prenatal WES for each type of fetal structural anomaly and the identified pathogenic genes and mutations were reported.
RESULTS
In this study, we retrospectively analyzed the clinical and genetic data of 145 structurally anomalous fetuses. These cases were classified into 9 phenotypic classes based on antenatal ultrasound findings. Thirty-eight pathogenic variants in 24 genes were identified in 35 of the 145 cases, including 14 novel variants in 13 genes (EP300, MYH3, TSC2, MMP9, CPLANE1, INVS, COL1A1, EYA1, TTC21B, MKS1, COL11A2, PDHA1 and L1CAM). Five additional pathogenic variants were classified as incidental findings. Our study showed that the overall diagnosis rate of WES was 28.1% (27/96) in the parent-fetus trio cases and 16.3% (8/49) in the proband-only cases. Fetuses with musculoskeletal anomalies had the highest diagnostic yield (51.4%, 19/37). In addition, FGFR3 and COL1A1 were the most common pathogenic genes.
CONCLUSIONS
Our work expands the mutation spectrum of the genes associated with fetal structural anomalies and provides valuable information for future parental genetic counselling and pregnancy management of the structurally anomalous fetuses.
Topics: Female; Humans; Pregnancy; East Asian People; Exome Sequencing; Fetus; Pregnancy Trimester, First; Prenatal Diagnosis; Retrospective Studies; Ultrasonography, Prenatal; Congenital Abnormalities
PubMed: 37880672
DOI: 10.1186/s12920-023-01697-3 -
Scientific Reports Sep 2021The aim of present study was to assess the karyotypes of amniotic fluid cells and find the frequency of chromosomal abnormalities and their significance in clinical...
The aim of present study was to assess the karyotypes of amniotic fluid cells and find the frequency of chromosomal abnormalities and their significance in clinical setting. A total of 15,401 pregnant women were assessed from March 2016 to May 2019, and 14,968 amniotic fluid samples were successfully cultured. These fetuses were grouped according to different indications including advanced maternal age, abnormal nuchal translucency (NT) values, positive first/second trimester screening results, high risk NIPT results, very low PAPP-A and free β-hCG multiples of the normal median (MoM) results, abnormal ultrasound findings or previous history of chromosomal abnormalities. Results indicated the presence of normal karyotype in 90.2% (13,497/14,968) of fetuses. Totally, 46.4% (6945/14,968) of fetuses were 46,XX and 43.8% (6552/14,968) had 46,XY chromosome pattern. A total of 1077 abnormal karyotypes were found among 14,968 fetuses, thus the rate of abnormal fetuses was calculated to be 7.2% (1072/14,968). Meanwhile, a total of 394 cases (2.8%) had a normal polymorphism in their karyotype. In other words, abnormal karyotypes were detected in one of 13.9 cases of patients underwent amniocentesis. Down syndrome, Edward's syndrome, abnormal mosaicisms and Patau's syndrome were detected in 4.4% (659/14,968), 0.57% (85/14,968), 0.49% (74/14,968) and 0.24% (36/14,968) of cases, respectively. Sex chromosomal abnormalities including Klinefelter syndrome, Turner syndrome and 47,XXX karyotype were detected in 64 cases (0.43%). In this article, the rates of chromosomal abnormalities are compared between different groups of patients based on the advanced maternal age, abnormal NT values, very low PAPP-A and free β-hCG MoMs results, and positive FTS results. The current investigation provides insight into the most appropriate indications for amniocentesis in Iran.
Topics: Adult; Amniocentesis; Chromosome Aberrations; Congenital Abnormalities; Female; Humans; Iran; Prenatal Diagnosis
PubMed: 34593920
DOI: 10.1038/s41598-021-98928-3 -
Fertility and Sterility Oct 2016
Topics: 46, XX Disorders of Sex Development; Abnormalities, Multiple; Congenital Abnormalities; Humans; Mullerian Ducts; Syndrome; Uterus; Vagina
PubMed: 27430204
DOI: 10.1016/j.fertnstert.2016.06.033 -
Medicina Oral, Patologia Oral Y Cirugia... Nov 2018Bifid mandibular condyle (BMC) constitutes an extremely rare disorder characterized by a duplication of the head of the mandibular condyle. Its prevalence ranges from...
BACKGROUND
Bifid mandibular condyle (BMC) constitutes an extremely rare disorder characterized by a duplication of the head of the mandibular condyle. Its prevalence ranges from 0.31% to 1.82% in the published literature.
OBJECTIVES
The primary objective was to describe the main etiological, clinical and radiological characteristics of patients with BMCs and the existent treatment options. The secondary objective was to simultaneously include the characteristics of two new cases of BMC.
MATERIAL AND METHODS
An electronic search in Pubmed (MEDLINE), Scopus and The Cochrane Library was carried out by two independent reviewers until April 2018. Prospective or retrospective cohort studies, case series and case reports describing clinical and/or radiological characteristics of patients with BMC were included. Registered variables were demographic, etiological factors, diagnostic exam, clinical characteristics and treatment options. The results from the articles selected were organized in a Table along with the characteristics of two new cases of BMC provided by the authors.
RESULTS
From a total of 431 articles found in the initial search, 68 articles were finally included. This systematic review included 216 patients and 270 BMC with an average age of 30.6 (SD=14.7) years and a women:men ratio of 1.4:1. Mediolateral condylar orientation was the most prevalent position (80.1%). Among cases with known etiology, 40.8% of cases had a history of traumatism, while 55.9% did not present any relevant medical background. Half of the symptomatic cases had history of trauma. The most common symptoms were hypomobility (22.7%), arthralgia (18.1%), articular noise (17.2%) and ankylosis (17.6%). Active monitoring and manufacturing an occlusal splint were the most frequent treatment options.
CONCLUSIONS
BMC may have congenital or traumatic etiology. Hypomobility and arthralgia are the most frequent symptoms and treatment options are often conservative.
Topics: Congenital Abnormalities; Female; Humans; Male; Mandibular Condyle; Middle Aged
PubMed: 30341271
DOI: 10.4317/medoral.22681