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]

• 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]

• Respiratory Insufficiency

  Severely affected fetuses are born with oligohydramnios and Potter facies; some will develop respiratory insufficiency. [patient.info]

• Nausea

  Symptoms associated with an arachnoid cyst can include headaches, nausea and vomiting, seizures, hearing and visual disturbances and difficulties with balance and walking. [cedars-sinai.edu]

  Because of its ability to prevent nausea, it was prescribed for pregnant women in almost 50 countries worldwide between 1956 and 1962.[35] Until William McBride published the study leading to its withdrawal from the market at 1961, about 8 to 10,000 severely [en.wikipedia.org]

  More specifically, they should know how to interpret nuclear medicine gastric emptying studies and how to integrate information about gastric emptying in the evaluation and treatment of the child with nausea, vomiting, and other dyspeptic symptoms. [journals.lww.com]

• Cyanosis

  Because congenital defects often affect the heart's ability to pump blood and to deliver oxygen to the tissues of the body, they often produce telltale signs such as: a bluish tinge or color (cyanosis) to the lips, tongue, and/or nailbeds an increased [kidshealth.org]

  […] condition that results from taking thalidomide during pregnancy septal defect a congenital abnormality in the septum between the left and right sides of the heart Fallot's syndrome, Fallot's tetralogy, tetralogy of Fallot a congenital heart defect producing cyanosis [vocabulary.com]

  […] and symptoms Congenital heart disease can have a number of symptoms, particularly in babies and children, including: rapid heartbeat rapid breathing swelling of the legs, tummy or around the eyes extreme tiredness and fatigue a blue tinge to the skin (cyanosis [nhs.uk]

  Infant with cyanosis due to hypo plastic left heart syndrome 67. [slideshare.net]

• 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]

• Phenylketonuria

  Two common metabolic disorders are phenylketonuria (PKU) and hypothyroidism. Degenerative disorders --are conditions that might not be obvious at birth, but cause one or more aspects of health to steadily get worse. [medicinenet.com]

  Diabetes mellitus or phenylketonuria, a rare genetic disease, during pregnancy also increases your risk for having a baby with congenital brain defects. [healthline.com]

  Maternal chronic illnesses – These may include diabetes, phenylketonuria (PKU) and a deficiency in the B vitamin folic acid. [americanpregnancy.org]

  For example, phenylketonuria (PKU) is a heritable condition caused by the malfunction of the PAH enzyme that breaks down the amino acid phenylalanine. [nature.com]

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.edu]

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]