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Congenital Malformation

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]
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]
Wound Infection
  • Trainees also should be aware of the common complications following transplantation of the bowel, including surgical postoperative issues (eg, bleeding, thrombosis, wound infection, compartment syndrome), rejection, infection, and long-term complications[journals.lww.com]
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]
  • ORThe occipitofrontal circumference is more than two standard deviations below normal for gestational age, the disproportionally small head. Causes Intrauterine infectione.g.Rubella. Alcohol syndrome. Some trisomic disorders,That is chromosomal defecte.g.Down[slideshare.net]

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]
  • Etiology and embryogenesis Theories abound to explain teratoma occurrence.[emedicine.medscape.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]

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]
  • As member registries of EUROCAT, we provide essential epidemiologic information on congenital anomalies in Europe facilitate early warning of new teratogenic exposures evaluate the effectiveness of primary prevention assess the impact of developments[hse.ie]
Sex distribution
Age distribution

Pathophysiology

  • Trainees should be familiar with the pathophysiology and modes of presentation of gastroesophageal reflux disease (GERD) and how it is distinguished from physiologic gastroesophageal reflux.[journals.lww.com]

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]
  • 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]
  • Known risk factors, prevalence-related impacts of prenatal diagnosis and preventive measures are also discussed.[phac-aspc.gc.ca]

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