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120 Possible Causes for Congenital Hemihypertrophy, Ventricular Septal Defect

  • Beckwith-Wiedemann Syndrome

    The infant had a ventricular septal defect, hand and skull anomalies, and hyperglycaemia compatible with haploinsufficiency of TBX20, GLI3, and GCK genes, respectively.[ncbi.nlm.nih.gov] Several conditions involving congenital hemihypertrophy have been previously reported in association with Type I Chiari malformation.[ncbi.nlm.nih.gov] […] absence of heart structure Congenital anomaly of trunk Congenital contractural arachnodactyly Congenital hemihypertrophy Congenital iodine deficiency syndrome Congenital[icd9data.com]

  • Smith Lemli Opitz Syndrome

    Echocardiography revealed a double-outlet right ventricle with ventricular septal defect and pulmonary stenosis.[ncbi.nlm.nih.gov] […] absence of heart structure Congenital anomaly of trunk Congenital contractural arachnodactyly Congenital hemihypertrophy Congenital iodine deficiency syndrome Congenital[icd9data.com] Cardiovascular anomalies (atrial and ventricular septal defects, patent ductus arteriosus, atrioventricular canal) can be present.[orpha.net]

  • Mandibulofacial Dysostosis

    Cardiac anomalies, especially ventricular septal defects, are more common in affected children than in healthy children.[emedicine.com] […] premature 756.0 skull, imperfect 756.0 Goldenhar's syndrome (oculoauriculovertebral dysplasia) 756.0 Greig's syndrome (hypertelorism) 756.0 Hallermann-Streiff syndrome 756.0 Hemihypertrophy[icd9data.com] (congenital) 759.89 cranial 756.0 Hyperostosis 733.99 Hypertelorism 756.0 Hypoplasia, hypoplasis 759.89 skull (bone) 756.0 Idiot, idiocy (congenital) 318.2 oxycephalic 756.0[icd9data.com]

  • Seckel Syndrome

    […] absence of heart structure Congenital anomaly of trunk Congenital contractural arachnodactyly Congenital hemihypertrophy Congenital iodine deficiency syndrome Congenital[icd9data.com] hemihypertrophy and short stature) 759.89 Seckel's 759.89 sick Silver's (congenital hemihypertrophy and short stature) 759.89 Smith-Lemli-Opitz (cerebrohepatorenal syndrome[icd9data.com] […] syndrome (dysplasia oculodentodigitalis) 759.89 Gorlin-Chaudhry-Moss syndrome 759.89 Hemihypertrophy (congenital) 759.89 Hyperekplexia 759.89 Hyperexplexia 759.89 Hypoplasia[icd9data.com]

  • Congenital Hemihypertrophy

    Observed cardiac and aortic anomalies include aortic aneurysm, aortic dissection, atrial septal defect, and ventricular septal defect.[pubs.rsna.org] An 18 year old woman with congenital hemihypertrophy of her left side, presented with the rapid onset of virilism, hypertension and a cushingoid appearance.[ncbi.nlm.nih.gov] Abstract We have presented a case of medullary sponge kidney associated with congenital hemihypertrophy.[ncbi.nlm.nih.gov]

  • Multiple Congenital Anomalies

    We report on a fetus with multiple congenital anomalies including atypical lissencephaly, corpus callosum agenesis, cerebellar hypoplasia, cleft palate, ventricular septal[ncbi.nlm.nih.gov] […] retardation; multiple congenital anomalies; nephroblastomatosis; renal dysplasia; trisomy 18[ncbi.nlm.nih.gov] septal defect, absent spleen, camptodactyly, and severe psychomotor retardation.[ncbi.nlm.nih.gov]

  • Alagille Syndrome

    He was also found to have obstructive jaundice, pulmonary stenosis with ventricular septal defect and paucity of bile ducts in liver biopsy.[ncbi.nlm.nih.gov] […] absence of heart structure Congenital anomaly of trunk Congenital contractural arachnodactyly Congenital hemihypertrophy Congenital iodine deficiency syndrome Congenital[icd9data.com] Thirteen had pulmonary atresia with ventricular septal defect (PA/VSD) and two had pulmonary atresia with intact ventricular septum (PA-IVS).[ncbi.nlm.nih.gov]

  • Noonan Syndrome

    Here, we report a Japanese female infant with NS carrying the PTPN11 T73I mutation with NS/MPD, complete atrio-ventricular septal defect, and rapidly progressive HCM.[ncbi.nlm.nih.gov] […] absence of heart structure Congenital anomaly of trunk Congenital contractural arachnodactyly Congenital hemihypertrophy Congenital iodine deficiency syndrome Congenital[icd9data.com] septal defects, decreased muscle tone, and minor facial anomalies consistent with Noonan syndrome.[ncbi.nlm.nih.gov]

  • Mosaic Trisomy 1

    Methods Patient 1 was a girl with a tracheoesophageal fistula, horse-shoe kidneys and a ventricular septal defect.[link.springer.com] Syndrome of congenital hemihypertrophy, shortness of stature, and elevated urinary gonadotropins. Pediatrics. 1953 ; 12 : 368 – 376. 18..[academic.oup.com] […] ductus arteriosus Ventricular septal defect Gastrointestinal x-rays or ultrasound may show rotation of the internal organs.[medlineplus.gov]

  • Kabuki Syndrome

    The most common congenital heart defects were coarctation of the aorta, and atrial and ventricular septal defects.[ncbi.nlm.nih.gov] […] absence of heart structure Congenital anomaly of trunk Congenital contractural arachnodactyly Congenital hemihypertrophy Congenital iodine deficiency syndrome Congenital[icd9data.com] septal defect (3/19   16%), atrial septal defect ostium secundum type (3/19   16%), conotruncal heart defects (3/19   16%).[ncbi.nlm.nih.gov]

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