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]
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]
Hematological
- Hemophilia A
X-linked conditions are genetic abnormalities that mainly occur in males (e.g. hemophilia, color blindness, forms of muscular dystrophy). [healthychildren.org]
[…] following are different categories of congenital abnormalities: • chromosome abnormalities (eg, Down syndrome); • single-gene abnormalities (eg, autosomal dominant inheritance; autosomal recessive inheritance, such as cystic fibrosis; sex linked, such as hemophilia [fortherecordmag.com]
The best known is hemophilia, caused by mutation s of an X-linked gene. Other congenital disorders The most common congenital disorder affecting cell membrane transport is cystic fibrosis. [britannica.com]
Entire Body System
- 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]
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]
- 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]
- Pulmonary Valve Stenosis
Pulmonary valve stenosis Pulmonary valve stenosis is a defect where the pulmonary valve, which controls the flow of blood out of the right heart pumping chamber (the right ventricle) to the lungs, is narrower than normal. [nhs.uk]
More information about Patent Ductus Arteriosis (PDA) Pulmonary Valve Stenosis A thickened or fused heart valve that does not fully open. The pulmonary valve allows blood to flow out of the heart, into the pulmonary artery and then to the lungs. [heart.org]
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]
[…] aorta Ebstein’s anomaly Patent ductus arteriosus (PDA) Pulmonary valve astresis Pulmonary valve stenosis Tetralogy of Fallot Transposition of the great arteries or vessels Tricuspid valve atresia Truncus arteriosus Ventricular septal defect (VSD) How [americanpregnancy.org]
Respiratoric
- Common Cold
Of 1349 cases with MCA without recognized genetic and teratogenic syndromes in the total dataset, 181 had a possible association with influenza, common cold with secondary complications, tonsillitis and recurrent orofacial herpes with high fever in the [ncbi.nlm.nih.gov]
Cardiovascular
- Hypertension
The clinical significance of mild-grade proteinuria and hypertension seen in some patients is unknown [ 3 ]. [patient.info]
Pulmonary hypertension can then cause systemic hypertension. Severe cases may result in perinatal demise. Diagnosis is often made by findings on routine prenatal ultrasonography, including severe bilateral hydroureteronephrosis or oligohydramnios. [msdmanuals.com]
Chronic maternal conditions (e.g. diabetes, hypertension, autoimmune diseases such as lupus, myasthenia gravis or graves disease) can negatively affect the developing fetus. [healthychildren.org]
Maternal diseases evaluated were: arterial hypertension, diabetes mellitus, toxoplasmosis, syphilis, and rubella. Both for arterial hypertension and diabetes, preexisting diagnoses and those developed during the pregnancy were grouped together. [scielo.br]
- 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]
Musculoskeletal
- 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]
- Muscle Weakness
The cardinal symptom of all myasthenic disorders is muscle weakness that is induced or worsened by exertion. This is referred to as fatigable weakness. [rarediseases.org]
Children born with congenital brain defects also may have: cardiovascular disorders gastrointestinal defects cleft lip and palate seizures head pain muscle weakness reduced vision bladder and bowel problems Several types of congenital brain defects are [healthline.com]
Treatment
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]
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]
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]
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]
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]
Epidemiology
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]
Pathophysiology
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]
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]
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]