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BMJ Case Reports Jun 2014
Topics: Cleft Palate; Congenital Abnormalities; Heart Septal Defects, Ventricular; Holoprosencephaly; Humans; Infant, Newborn; Male; Microcephaly; Nose; Syndrome
PubMed: 24913079
DOI: 10.1136/bcr-2014-203535 -
American Journal of Medical Genetics.... Jan 2012Microtia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur as an isolated birth... (Review)
Review
Microtia is a congenital anomaly of the ear that ranges in severity from mild structural abnormalities to complete absence of the ear, and can occur as an isolated birth defect or as part of a spectrum of anomalies or a syndrome. Microtia is often associated with hearing loss and patients typically require treatment for hearing impairment and surgical ear reconstruction. The reported prevalence varies among regions, from 0.83 to 17.4 per 10,000 births, and the prevalence is considered to be higher in Hispanics, Asians, Native Americans, and Andeans. The etiology of microtia and the cause of this wide variability in prevalence are poorly understood. Strong evidence supports the role of environmental and genetic causes for microtia. Although some studies have identified candidate genetic variants for microtia, no causal genetic mutation has been confirmed. The application of novel strategies in developmental biology and genetics has facilitated elucidation of mechanisms controlling craniofacial development. In this paper we review current knowledge of the epidemiology and genetics of microtia, including potential candidate genes supported by evidence from human syndromes and animal models. We also discuss the possible etiopathogenesis in light of the hypotheses formulated to date: Neural crest cells disturbance, vascular disruption, and altitude.
Topics: Animals; Congenital Abnormalities; Congenital Microtia; Deafness; Disease Models, Animal; Ear; Humans; Mice; Prevalence; Risk Factors
PubMed: 22106030
DOI: 10.1002/ajmg.a.34352 -
Tidsskrift For Den Norske Laegeforening... Aug 2013
Topics: Congenital Abnormalities; Genetic Diseases, Inborn; Genome, Human; Humans; Sequence Analysis, DNA; Syndrome
PubMed: 23970244
DOI: 10.4045/tidsskr.13.0747 -
Ultrasound in Obstetrics & Gynecology :... Jul 2000
Topics: Congenital Abnormalities; Female; Humans; Kidney Pelvis; Pregnancy; Ultrasonography, Prenatal; Urinary Tract
PubMed: 11084957
DOI: 10.1046/j.1469-0705.2000.00161.x -
The American Journal of Pathology Mar 1979
Review
Topics: Asphyxia Neonatorum; Congenital Abnormalities; Embryo, Mammalian; Female; Fetal Diseases; Fetus; Growth; Humans; Infant, Newborn; Infant, Newborn, Diseases; Infections; Inflammation; Male; Neoplasms; Pregnancy
PubMed: 371414
DOI: No ID Found -
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 -
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 -
BioMed Research International 2018In the most recent publications on Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, the uterine remnants and ovaries in patients may develop uterine remnant leiomyoma,... (Review)
Review
In the most recent publications on Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome, the uterine remnants and ovaries in patients may develop uterine remnant leiomyoma, adenomyosis, or ovarian tumor, and this can lead to problems in differential diagnosis. Here we summarize the diagnosis methods and available interventions for ovarian tumor in MRKH syndrome, with emphasis on the relevant clinical findings and illustrative relevant case. According to the clinical findings and illustrative relevant case, with the help of imaging techniques, ovarian tumors can be detected in the pelvis in patients with MRKH syndrome and evaluated in terms of size. Laparoscopy could further differentiate ovarian tumors into different pathological types. In addition, laparoscopic surgery not only is helpful for the diagnosis of MRKH combined ovarian tumor, but also has a good treatment role for excising ovarian tumor at the same time. Moreover, laparoscopic removals of ovarian tumor can be considered as a safe and reliable treatment for conservative management.
Topics: 46, XX Disorders of Sex Development; Congenital Abnormalities; Female; Humans; Laparoscopy; Mullerian Ducts; Ovarian Neoplasms
PubMed: 29721502
DOI: 10.1155/2018/2369430 -
HPB Surgery : a World Journal of... 1996The removal of acalculous and not acutely inflamed gall-bladder in patients with typical biliary pain remains a questionable procedure. This study was conducted to...
The removal of acalculous and not acutely inflamed gall-bladder in patients with typical biliary pain remains a questionable procedure. This study was conducted to present our experience. In the period 1982-90, 1089 cases of calculous and acalculous gallbladder disease were treated in our clinic. In this period, 27 patients were subjected to cholecystectomy because of an acalculous, non inflamed gallbladder which was elongated lying in an abnormal position with a long cystic duct. The mean duration of symptoms supportive of cholelithiasis, was 5 years. Oral cholecystogram and ultrasonography led to the diagnosis and other causes of chronic abdominal pain were excluded. There were 13 lumbar, 9 pelvic and 5 iliac gallbladders, with poor function in 20 of them. During cholecystectomy, the organ was invested by peritoneum and suspended in 7 cases from a mesentery. On pathological examination mild chronic inflammation was reported in 19 cases and minimal changes in 8. The minimum follow up was one year and the maximum 9 years. Complete relief of symptoms was achieved in all the cases. In conclusion, cholecystectomy should be offered in these symptomatic "hanging" gallbladders.
Topics: Adult; Aged; Cholecystectomy; Cholecystitis; Congenital Abnormalities; Female; Gallbladder; Humans; Male; Middle Aged
PubMed: 8725452
DOI: 10.1155/1996/60802 -
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