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Congenital Abnormality

Deformity


Presentation

  • A family with a new congenital dysprothrombinemia is presented. The propositus is a 21-yr-old man who presented simultaneously with hemartrosis of the left knee and an extensive hematoma following a minor trauma.[ncbi.nlm.nih.gov]
  • The classic presentation is typically progressive, commonly manifested as visual field defects, growth abnormalities and/or endocrine disturbance.[ncbi.nlm.nih.gov]
  • None of the affected members showed thrombotic manifestations and no consanguinity was present in the family.[ncbi.nlm.nih.gov]
  • A case of a complex aortic arch anomaly with an aneurysm of the right subclavian artery presenting as an isolated Horner's syndrome in an adult is reported herein. Magnetic resonance imaging led to this very unusual diagnosis.[ncbi.nlm.nih.gov]
  • Presenting symptoms may include changes in voice, eating, and activity levels, and respiratory complaints. We treated a 2 1/2-year-old boy with an 8-month history of upper airway compromise.[ncbi.nlm.nih.gov]
Infertility
  • […] mutations in MAMLD1 ( CXorf6 ) gene ( Horm Res 2009;71:245 ) Urethral opening is usually near glans Hypospadias and epispadias are associated with abnormal descent of testes, urinary tract malformations, obstruction, urinary tract infections and possibly infertility[pathologyoutlines.com]
  • Without surgical correction, severe hypospadias may cause urination problems and infertility.[ummchealth.com]
  • Symptoms can include abnormal pain before a period, abnormal bleeding and infertility issues.[northwell.edu]
  • The germ cells suffer oxidative damage, and the effects can be seen in altered mRNA production, infertility issues, and side effects in the embryonic and fetal stages of development.[en.wikipedia.org]
Soft Tissue Mass
  • Radiographic studies showed a rounded, right-sided, supraglottic soft tissue mass. Direct laryngoscopy revealed a well-mucosalized, encapsulated, firm 3 x 2.5-cm mass that originated from the right supraglottic structures.[ncbi.nlm.nih.gov]
High Fever
  • In the total dataset of 1349 MCA, 2.8% of cases can be associated with high fever.[ncbi.nlm.nih.gov]
Small Head
  • However, if a small head circumference is detected in the neonatal period it is prudent to perform an x ray of the skull to look for evidence of early closure of all the cranial sutures (total craniosynostosis).[jnnp.bmj.com]
  • Microcephaly is a disorder in which the fetus has an atypically small head, cerebral calcifications means certain areas of the brain have atypical calcium deposits, and meningoencephalitis is the enlargement of the brain.[en.wikipedia.org]

Treatment

  • CONCLUSION: Because of the paradoxical feelings experienced, women need as much information as they request regarding the abnormality, its treatment, and prognosis.[ncbi.nlm.nih.gov]
  • Open ureteral reimplantation (UR) is the gold-standard surgical treatment for this condition, where the child's original ureters are repositioned in the bladder wall.[archive.ahrq.gov]
  • If the MRI scan shows any evidence of these malformations, a neurosurgical consultation is recommended to develop the best treatment plan.[hopkinsmedicine.org]

Prognosis

  • CONCLUSION: Because of the paradoxical feelings experienced, women need as much information as they request regarding the abnormality, its treatment, and prognosis.[ncbi.nlm.nih.gov]
  • This knowledge can be used to better understand the needs of the population (ie, diagnosis, prognosis, counseling) and to develop policies for health care.[bmcoralhealth.biomedcentral.com]
  • The prognosis of os odontoideum depends on the clinical presentation. The prognosis is good if only mechanical symptoms ( torticollis or neck pain) or transient neurological symptoms exist. It is poor if neurological deficits slowly progress.[boneandspine.com]
  • Identification of the underlying syndrome is important for prognosis and family counseling; a clinical geneticist, when available, can help guide the evaluation.[merckmanuals.com]

Etiology

  • A case of congenital defect in an abortus is described and the forensic implications of unawareness of childhood artefactual abnormalities which may appear to have a cryptogenic criminal etiology are reiterated.[ncbi.nlm.nih.gov]
  • The remaining 520 cases with OCs and other anomalies (351 CL/P and 169 CP) were unidentified ( verba , of unknown etiology).[bmcoralhealth.biomedcentral.com]
  • Understand that what appears to be the same birth defect or congenital anomaly may have completely different etiologies in different individuals .[med.umich.edu]
  • Pathology These defects as a group have a heterogeneous etiology with many resulting from an interplay between both genetic and environmental factors.[radiopaedia.org]
  • […] agreed to promote primary prevention and improve the health of children with congenital anomalies by: developing and strengthening registration and surveillance systems developing expertise and building capacity strengthening research and studies on etiology[who.int]

Epidemiology

  • The clinical, embryological, and epidemiological evidence may support an early teratogenic insult in the aetiology of this congenital defect.[ncbi.nlm.nih.gov]
  • (N Engl J Med 294:972–974, 1976) Author Affiliations From the Immunization Division, Bureau of State Services, and Field Services Division, Bureau of Epidemiology, Center for Disease Control, Public Health Service, U.S.[nejm.org]
  • Finally, (e) cases born between 1980 and 1982 were studied further in the context of a separate epidemiological study carried-out between 1982 and 1983.[bmcoralhealth.biomedcentral.com]
  • Author Affiliations †Assistant professor, Department of Epidemiology, Harvard School of Public Health.[nejm.org]
  • Conduct epidemiological studies of specific malformations. Respond to medical inquiries regarding congenital malformations.[health.ny.gov]
Sex distribution
Age distribution

Prevention

  • The data base of the Registry was appropriate to estimate the proportion of preventable congenital abnormalities due to the four different preventive programs and to evaluate the pregnancy outcomes after the Chernobyl nuclear power plant accident.[ncbi.nlm.nih.gov]
  • This paper summarizes the activities and the evolution of the HCAR over the past 50 years (1962-2011) including the Hungarian Case-Control Surveillance of Congenital Abnormalities for postmarketing surveillance of drug teratogenicity and prevention of[ncbi.nlm.nih.gov]
  • Known risk factors, prevalence-related impacts of prenatal diagnosis and preventive measures are also discussed.[phac-aspc.gc.ca]
  • Surgery may be required to prevent kidney damage.[ummchealth.com]
  • Prevention Preventive public health measures work to decrease the frequency of certain congenital anomalies through the removal of risk factors or the reinforcement of protective factors.[who.int]

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