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]

Classification by developmental mechanism or clinical presentation can be important in surveillance, because the same congenital anomaly can have different etiologies. [cdc.gov]

A congenital anomaly (congenital abnormality, congenital malformation, birth defect) is a condition which is present at the time of birth which varies from the standard presentation. [patientslikeme.com]

• Anemia

  Syndromes associated with carpal anomalies include arthrogryposis, diastrophic dwarfism, dyschondrosteosis, Ellis-Van Creveld syndrome, epiphyseal dysplasia, Fanconi’s anemia, Hand-Foot-Uterus syndrome, Holt-Oram syndrome, homocystinuria, OtoPalato-Digital [ajronline.org]

  […] network of nerves; there is little urge to defecate so the feces accumulate and cause megacolon ungentlemanly not befitting a gentleman congenital disease a disease or disorder that is inherited genetically congenital pancytopenia a rare congenital anemia [vocabulary.com]

  Yes or no The difference of Anemia amount of red blood cell and normal. Illustration about medical. Symptoms of down syndrome poster. Abnormal ears, short hands, flattened face and nose, heart disease, big toes widely spaced. [shutterstock.com]

  Congenital erythrooietic porphyria with hemolytic anemia. Indian J Dermatol 2005;50 (3)155-157. Chatterji AK, Chatterjea JB. Porphyria Erythropoietica in India. A review of 21 cases. J. Indian Med. Assos. 1977;56: 255-263. [tmg.org.rs]

  When MCA-PSV is >1.5 MoM for gestational age, fetal anemia is suspected and cordocentesis to assess fetal hemoglobin level as well as possible intrauterine transfusion are recommended (see section on cordocentesis). [3] Many fetal organ systems and anatomical [emedicine.medscape.com]

• Atrial Septal Defect

  Atrial septal defects An atrial septal defect (ASD) is where there's a hole between the two collecting chambers of the heart (the left and right atria). [nhs.uk]

  Do you have a child between 30 days and 17 years old who will have elective surgery to close an atrial septal defect? This study tests a tool that allows surgeons to tell the difference between various types of heart tissue and avoid injury. [nhlbi.nih.gov]

  This is a defect in another heart valve, the tricuspid valve, which may keep it from closing tightly. Babies who have Ebstein’s also often have an atrial septal defect (ASD). Pulmonary valve stenosis. [webmd.com]

  Surgical procedures are also used to treat common congenital heart defects. To close a medium to large ventricular or atrial septal defect, it is recommended that it be sutured or covered with a Dacron patch. [surgeryencyclopedia.com]

  According to the National Heart Lung and Blood Institute, the most common types of congenital heart defects are: Anomalous pulmonary venous return Atrial septal defect (ASD) Atrioventricular septal defect (AVSD) Aortic valve stenosis Coarctation of the [americanpregnancy.org]

• 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]

  Without treatment, affected individuals experience delayed puberty or do not go through puberty, and may be unable to conceive children (infertile). Congenital leptin deficiency is a rare disorder. [ghr.nlm.nih.gov]

  Symptoms can include abnormal pain before a period, abnormal bleeding and infertility issues. [northwell.edu]

  […] confounders (Maternal age, maternal race, ethnic group, maternal education, year of LMP, study center, smoking and alcohol 1st trimester, history of a birth defect in first degree relative, BMI, parity, presence/absence of seizures, DM, hypertension, infertility [richtlijnendatabase.nl]

• Developmental Disorder

  The absence of the entire IVC is thought to be a result of an embryologic disorder, whereas perinatal thrombosis is hypothesised to lead to the development of absent infrarenal IVC, thus the latter is a developmental disorder and the former occurs due [ncbi.nlm.nih.gov]

  While developmental disability includes many other disorders, developmental disability and developmental delay (for people under the age of 18) are generally considered more polite terms than mental retardation. [en.wikipedia.org]

  Neuronal migration disorders: from genetic diseases to developmental mechanisms. Trends in Neuroscience 2000 ; 23 : 352 –9. ▸ An excellent recent review. Govaert P, de Vries LS. An atlas of neonatal brain sonography. [jnnp.bmj.com]

• Failure to Thrive

  These digestive problems can lead to failure to gain weight and grow at the expected rate (failure to thrive) and malnutrition. Most affected children are better able to tolerate sucrose and maltose as they get older. [ghr.nlm.nih.gov]

  […] to thrive (weight loss or failure to gain weight) abnormal heart murmur sweating, especially during feedings a weaker pulse If you notice any of these signs in your baby or child, call your doctor right away. [kidshealth.org]

  Fallujah Hospital) the baby will just die of what seems to the parents to be pneumonia, or failure to thrive, or the child will die for no apparent reason. [rt.com]

• Small Head

  DISORDERS OF CORTICAL DEVELOPMENT Disorders of proliferation and differentiation Microcephaly This is an abnormally small head circumference (< 0.4th centile on occipito-frontal head circumference charts), which is disproportionately small in relation [jnnp.bmj.com]

  […] of the head in relation to the size of the rest of the body. [slideshare.net]

  head,[49] cerebral calcifications means certain areas of the brain have atypical calcium deposits,[50] and meningoencephalitis is the enlargement of the brain. [en.wikipedia.org]

• Cryptorchidism

  Cryptorchidism [ 26 ] Testicular descent is arrested. This is the most common congenital anomaly affecting the genitalia of newborn male infants. [patient.info]

  It was about a patient, of masculine kind, received in consultation at the age of 14 years for bilateral cryptorchidism confirmed to the clinical exam. The cytogenetic analysis indicated a normal karyotype of feminine type. [ajol.info]

  (has a different embryologic defect) Penopubic epispadias (opening in penopubic junction) is most common, associated with urinary incontinence Treatment is surgical Hypospadias Most common congenital abnormality of male external genitalia other than cryptorchidism [pathologyoutlines.com]

   Cryptorchidism:-―The condition in which the testes failed to descend into the scrotum and are retained within the abdomen or inguinal canal.‖ Causes:-About five per cent of all boys are born with this condition. [slideshare.net]

• Toxoplasma Gondii

  Pregnant women should avoid eating undercooked meat and raw eggs and avoid all contact and exposure to cat feces and cat litter, which may contain a parasite, toxoplasma gondii, that causes toxoplasmosis. [childrenshospital.org]

  The most widespread infectious agents are the rubella virus, the cytomegaly virus and the toxoplasmosis parasite (toxoplasma gondii). To the chemical, teratogenic agents belong thalidomide, warfarin, chloroquine (malaria medicine) and lithium. [embryology.ch]

If the MRI scan shows any evidence of these malformations, a neurosurgical consultation is recommended to develop the best treatment plan. [hopkinsmedicine.org]

regardless of treatment (definition 2). [obgyn.onlinelibrary.wiley.com]

Treatment can improve symptoms and help prevent further neurological deterioration. [cedars-sinai.org]

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]

It runs the risk of misleading couples about the prognosis of severe abnormalities. Counsellors should be explicit about prognosis if treatment is provided, and about the implications of treatment for the fetus or infant. [obgyn.onlinelibrary.wiley.com]

The symptoms and prognosis for congenital brain malformations vary, depending on their type and severity. Some brain malformations are diagnosed at birth, while others may go undetected until adolescence or adulthood. [ucsfbenioffchildrens.org]

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]

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]

Also, the distinction may be important both clinically and in etiological studies. [cdc.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]

The clinical, embryological, and epidemiological evidence may support an early teratogenic insult in the aetiology of this congenital defect. [ncbi.nlm.nih.gov]

Epidemiology 2003;14:349-54. 22. WHO. International statistical classification of diseases and related health problems. 10 th ed. 2010. 3v. [jcnonweb.com]

Author Affiliations †Assistant professor, Department of Epidemiology, Harvard School of Public Health. [nejm.org]

Reproductive and developmental effects of occupational pesticide exposure: the epidemiologic evidence. Occup Med 1997 ; 12 : 305 –25 48. The epidemiologic study of birth defects and pesticides. Epidemiology 2001 ; 12 : 145 –6 49, Yu F et al. [academic.oup.com]

LF UK Plzeň | discipline: Histology, Embryology | keywords: | published on: 30.9.2014 Úvod do patologické fyziologie zubního lékařství ... arteriovenozní malformace ... 1.LF UK | discipline: Physiology and Pathophysiology | keywords: | published on: 14.5.2010 [portal.mefanet.cz]

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]

Types based on pathophysiology: Amniotic: infection, chorioamnionitis Maternal: diabetes mellitus, preeclampsia, pyelonephritis, syphilis Fetal: twin pregnancy, congenital anomalies affecting the swallowing or resorption of the amniotic fluid Unknown [intechopen.com]

Potential mechanisms The pathophysiology of malformations is multifactorial, with interactions between genetic and environmental factors. [bmj.com]

Porth pathophysiology : concepts of altered health states (1st Canadian ed.). Philadelphia, PA: Wolters Kluwer Health/Lippincott Williams & Wilkins. p. 128. ISBN 978-1-60547-781-7. ^ a b c "Birth Defects". Dec 15, 2015. [en.wikipedia.org]

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]

References- www.who.int/ *nrhm.gov.in apps.who.int Primary prevention is an important aspect in the prevention of congenital anomalies. [nhp.gov.in]

Can congenital heart defects be prevented? Most congenital heart defects cannot be prevented. A woman can do some things to reduce the risk of congenital heart defects though. [americanpregnancy.org]