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714 Possible Causes for Congenital Heart Disease, Microphthalmos

  • Patau Syndrome

    Most infants with trisomy 13 have congenital heart disease.[nlm.nih.gov] heart disease, blindness, severe mental retardation may complicate survival Please rate topic.[medbullets.com] There are often signs of congenital heart disease, such as: Abnormal placement of the heart toward the right side of the chest instead of the left Atrial septal defect Patent[nlm.nih.gov]

  • Fraser Syndrome

    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] Computerized Tomography revealed left microphthalmos and a malformation like-coloboma into right ocular globe with cysts and a small calcification parietal anterior.[ncbi.nlm.nih.gov] Shehata, TWO CASE REPORTS OF ANOPHTHALMIA AND CONGENITAL HEART DISEASE: Adding a New Dimension to this Association, Fetal and Pediatric Pathology, 29, 5, (291), (2010).[doi.org]

  • Laurence Moon Syndrome

    Congenital heart disease 10.[en.wikipedia.org] […] disabilities) 759.89 Marchesani (-Weill) syndrome (brachymorphism and ectopia lentis) 759.89 Meyer-Schwickerath and Weyers syndrome (dysplasia oculodentodigitalis) 759.89 Microphthalmos[icd9data.com] In addition to these classical features, microphthalmia, nystagmus, squint, optic atrophy, myopia, ptosis, syndactyly, oxycephaly, deaf mutism, congenital heart disease, genuvalgum[ijo.in]

  • Pierre Robin Syndrome

    Congenital heart disease occurs in about 20 percent of patients with Pierre Robin syndrome.[ncbi.nlm.nih.gov] There are often signs of congenital heart disease, such as atrial septal defect (ASD), patent ductus arteriosus, ventricular septal defect (VSD).[doi.org] Partial trisomy 11q in a female infant with Robin sequence and congenital heart disease. Cleft Palate Craniofac J. 1992 ; 29: 77 – 79.[doi.org]

  • CHARGE Syndrome

    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] A case of autism with CHARGE syndrome with microphthalmos and a superior colobomatous cyst arising from the optic disc is reported.[ncbi.nlm.nih.gov] Feature Includes Frequency Factsheet About Coloboma of the Eye Coloboma (sort of like a cleft) of the iris, retina, choroid, macula or disc (not the eyelid); microphthalmos[chargesyndrome.org]

  • Congenital Rubella Syndrome

    Among its many manifestations only congenital heart disease is life threatening.[ncbi.nlm.nih.gov] To describe a case of central serous chorioretinopathy after trabeculectomy surgery in an eye with microphthalmos in the setting of congenital rubella syndrome.[ncbi.nlm.nih.gov] Among its many manifestations, congenital heart disease is life threatening. A 9-month-old infant presented with whitish lesions over her left eye.[ncbi.nlm.nih.gov]

  • Kabuki Syndrome

    As congenital heart diseases are often present, cardiac ultrasonography is a useful study.[symptoma.com] The newly identified ophthalmic features in this patient included colobomatous microphthalmos and a dysplastic and elevated disc without central cupping.[ncbi.nlm.nih.gov] We describe a case of Kabuki syndrome with an MLL2 gene mutation and rare features of colobomatous microphthalmos and a dysplastic optic disc.[bmcophthalmol.biomedcentral.com]

  • Peters Anomaly

    There was developmental delay in 15 patients, congenital heart disease in eight patients, external ear abnormalities in five patients, structural defects of the central nervous[ncbi.nlm.nih.gov] […] reports are described to illustrate the unusual occurrence of dominant inheritance of Peters' anomaly and the concomitant occurrence of Peters' anomaly with colobomatous microphthalmos[jhu.pure.elsevier.com] Clinical findings of three siblings with Peters' anomaly and congenital heart disease, and histopathological findings of the second child were reported.[ncbi.nlm.nih.gov]

  • Smith Lemli Opitz Syndrome

    The malformations present were facial dysmorphisms, cleft palate, congenital heart disease, genitourinary abnormalities, and syndactyly of the toes.[ncbi.nlm.nih.gov] Cryptophthalmos, clinical anophthalmia, and microphthalmos with sclerocornea and microcornea have been reported.[disorders.eyes.arizona.edu] Chest radiography is important in looking for congenital heart disease and/or congenital pulmonary abnormalities.[patient.info]

  • Cor Triloculare Biventriculare

    Self-Assessment in Cardiology Congenital Heart Disease in Adults: Review Questions Jeffrey M.[studyres.com] Microphthalmos or anophthalmos are common features in chiasmal aplasia, while central nervous system abnormalities are less frequent.[biomedsearch.com] Cor triloculare biventriculare accounts for approximately 0.31% of cases of congenital heart disease (CHD).[ncbi.nlm.nih.gov]

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