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]

[…] congenital anomaly a defect that is present at birth congenital abnormality a defect that is present at birth congenital megacolon congenital condition in which the colon does not have the normal network of nerves; there is little urge to defecate so [vocabulary.com]

Clinical presentation and management The newborn usually presents with severe acute respiratory distress requiring endotracheal intubation or tracheotomy (see the images below). [emedicine.medscape.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]

• 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]

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]

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]

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

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]

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]

Prevention is certainly the best form of therapy. Primary prevention of CNS malformations is limited, with an exception of neural tube defects. [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]