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714 Possible Causes for Congenital Heart Disease, Microphthalmos

  • Patau Syndrome

    Most infants with trisomy 13 have congenital heart disease.[] heart disease, blindness, severe mental retardation may complicate survival Please rate topic.[] 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[]

  • 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).[] Computerized Tomography revealed left microphthalmos and a malformation like-coloboma into right ocular globe with cysts and a small calcification parietal anterior.[] 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).[]

  • Laurence Moon Syndrome

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

  • Pierre Robin Syndrome

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

  • 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[] A case of autism with CHARGE syndrome with microphthalmos and a superior colobomatous cyst arising from the optic disc is reported.[] 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[]

  • Congenital Rubella Syndrome

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

  • Kabuki Syndrome

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

  • 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[] […] reports are described to illustrate the unusual occurrence of dominant inheritance of Peters' anomaly and the concomitant occurrence of Peters' anomaly with colobomatous microphthalmos[] Clinical findings of three siblings with Peters' anomaly and congenital heart disease, and histopathological findings of the second child were reported.[]

  • Smith Lemli Opitz Syndrome

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

  • Cor Triloculare Biventriculare

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

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