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3,016 Possible Causes for Congenital Abnormality, Congenital Heart Disease

  • Turner Syndrome

    About half of the cases may suffer from congenital heart abnormalities.[ncbi.nlm.nih.gov] KEYWORDS: Turner syndrome; congenital heart disease; outcomes; trisomy 21[ncbi.nlm.nih.gov] Results were compared with previously published results of this questionnaire in women with congenital heart disease.[ncbi.nlm.nih.gov]

  • Smith Lemli Opitz Syndrome

    Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive disorder characterized by minor facial anomalies, mental retardation, and multiple congenital abnormalities.[ncbi.nlm.nih.gov] The malformations present were facial dysmorphisms, cleft palate, congenital heart disease, genitourinary abnormalities, and syndactyly of the toes.[ncbi.nlm.nih.gov] Children with this recessively inherited metabolic disorder of cholesterol metabolism present with a variety of congenital abnormalities of the nervous system and internal[ncbi.nlm.nih.gov]

  • CHARGE Syndrome

    A series of 46 patients with mental retardation and congenital abnormalities (previously screened for subtelomeric rearrangements) were evaluated for cryptic chromosomal imbalances[ncbi.nlm.nih.gov] heart disease ) A : atresia (choanal) R : retardation (mental) G : genital hypoplasia E : ear abnormalities /deafness CHARGE syndrome is usually suspected at birth once multiple[radiopaedia.org] OBJECTIVES: CHARGE syndrome is a complex cluster of congenital abnormalities, these children may have absent or hypoplastic auditory nerves.[ncbi.nlm.nih.gov]

  • Fraser Syndrome

    Fraser syndrome is an uncommon genetic disorder characterized by multiple congenital abnormalities.[ncbi.nlm.nih.gov] Cognitive deficits and congenital heart disease are common. Genetics Fraser syndrome 1 is caused by homozygous or heterozygous mutations in the FRAS1 gene (4q21.21).[disorders.eyes.arizona.edu] A post-mortem was undertaken to delineate the extent of her congenital abnormalities.[academic.oup.com]

  • Rubinstein-Taybi Syndrome

    […] cardiac abnormalities: reported in up to 33% of affected patients 2 patent ductus arteriosus atrial septal defects ventricular septal defect hirsutism Most cases are thought[radiopaedia.org] heart disease.[symptoma.com] RESULTS Most frequently reported eye anomalies in the literature were lacrimal duct obstruction, corneal abnormalities, congenital glaucoma, congenital cataract, and colobomata[bjo.bmj.com]

  • Velocardiofacial Syndrome

    These may include the following: • Tetralogy of Fallot, a congenital abnormality in which there is obstruction in the outflow from the right ventricle of the heart to the[rarediseases.org] We report on a child with congenital heart disease (atrial septal defect, ventricular septal defect, pulmonic stenosis), submucosal cleft palate, hypernasal speech, learning[ncbi.nlm.nih.gov] BACKGROUND: Velocardiofacial syndrome (VCFS) is a disorder commonly associated with a characteristic facial appearance, congenital heart disease, and velopharyngeal insufficiency[ncbi.nlm.nih.gov]

  • Thymic Aplasia

    Disorders presenting this way include cystic fibrosis, congenital abnormalities of the respiratory tract, bronchial asthma, bronchiectasis following acute pneumonia and sometimes[ispub.com] The diagnosis of DiGeorge syndrome was made in each on the basis of refractory hypocalcemia, typical facial features, absent thymic shadow, congenital heart disease and repeatedly[nature.com] It is also associated with abnormalities of the parathyroid glands and with consequent hypo-calcemic tetany and congenital heart disease.[btb.termiumplus.gc.ca]

  • Miller Dieker Syndrome

    DEL 1p36 This chromosomal abnormality results in intellectual impairment (moderate to severe), epilepsy and multiple congenital abnormalities.[epilepsydiagnosis.org] Prenatal ultrasonography findings in MDS are smooth gyral pattern, ventriculomegaly, large subarachnoid space, congenital heart disease and omphalocele [6] [7].[ijcasereportsandimages.com] Additionally, congenital anomalies such as omphalocele and heart defects are also identified prenatally.[symptoma.com]

  • Patau Syndrome

    Most infants with trisomy 13 have congenital heart disease.[nlm.nih.gov] abnormalities, and severe physical and cognitive impairment.[bmj.com] heart disease, blindness, severe mental retardation may complicate survival Please rate topic.[medbullets.com]

  • Levocardia

    heart disease in pediatric and adult patients.[books.google.ro] Diseases Category Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormalities Cardiovascular Abnormalities Heart Defects, Congenital Levocardia[ncbi.nlm.nih.gov] heart diseases.[ncbi.nlm.nih.gov]

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