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]

  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]

• 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]

  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]

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]

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]

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]

An etiological study of congenital malformation in the newborn. Indian Pediatr. 1982;19:1003-7. Dutta V, Chaturvedi P. Congenital malformations in rural Maharashtra. Indian Pediatr. 2000;37:998-1001. [ijrcog.org]

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

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

Isolated small intestinal atresias in Latin America and Spain: Epidemiological analysis. Am J Med Genet 2000;93:355-9. 21. Werler MM, Sheehan JE, Mitchell AA. [jcnonweb.com]

(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]

Epidemiological studies on the frequency of clefts in Europe and world-wide. J Cranio–Maxillofac Surg. 2006;34(Suppl2):1–2. (06)60001-2. 23. Bütow KW, van Wyk PJ, Zwahlen RA. [bmcpediatr.biomedcentral.com]

Conduct epidemiological studies of specific malformations. Respond to medical inquiries regarding congenital malformations. [health.ny.gov]

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 Záznam [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]

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]

Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention [aboutkidshealth.ca]

This study highlights the importance of measures for health promotion and disease prevention in childbearing-age women, with special attention to prenatal care and childbirth, which can directly influence neonatal indicators and prevention of birth defects [scielo.br]