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Copyright V. Ventruto / A. Di Luccio Genus database 13500 Ivemark syndrome Eponyms: Inheritance: asplenia-cardiovascular anomalies cardiosplenic syndrome polyasplenia teratologic syndrome of visceral heterotaxy isomerism sequence supposed autosomal recessive Semeiological Cardio-gastrointestinal-hematological disorder.Dextrocardia, partial visceral situs inversus, cyanosis due to severe pulmonary venous hypertension, other cardiovascular anomalies, splenic agenesis/polysplenia, HowellSynthesis: Jolly and Heinz bodies in the blood smear. Group Sub group Signs: CARDIOVASCULAR DISORDERS cardiac congenital defects atrial septal, defect atrioventricular septal, defect cardiopathy, congenital cyanosis dextrocardia GASTROINTESTINAL DISORDERS ileum and/or colon, anomalies bowell, small; mesentery anomaly gut malrotation, intestinal malrotation situs viscerum inversus liver dysfunctions, liver anomalies bile ducts, anomalies HEMOPOIETIC-LYMPHORETICULAR SYSTEM DISORDERS spleen, anomalies spleen accessory, polysplenia spleen hypoplasia, asplenia LABORATORY DATA granulocytes, changes granulocytes anomalous shape, inclusions, vacuolizations, including Dohle bodies myelo-erythropoietic disorders lympho-histioreticular diseases red cells shape, size changes, including acanthocytes NEUROLOGICAL DISORDERS brain anomalies corpus callosum, agenesis occipital encephalocele, myeloencephalocele, posterior encephalocele OTHERS supergroups gastrointestinal-hemato-urological disorders hematologic-respiratory-urological disorders hemato-neuro disorders PRENATAL-NEONATAL MODIFIED DATA foetal changes congenital tumour foetal changes, recognized by ultrasound techniques prenatal diagnosis prenatal diagnosis, echographic RESPIRATORY DISORDERS respiratory structures, thorax defect lung hypoplasia, lung structural defects, immaturity Ivemark syndrome Page 1 of 2 Copyright V. Ventruto / A. Di Luccio Genus database UROLOGICAL DISORDERS kidney, malformations kidney, cysts, including nephronophthisis (medullary cystic kidney) kidney, enlarged Super group: gastrointestinal-hemato-urological disorders hemato-neuro disorders hemato-respiratory-urological syndrome Super aggreg. FOETAL CHANGES foetal changes, recognized by ultrasound techniques Aggregations: HEMATOLOGICAL DISORDERS lympho-histioreticular diseases NEOPLASTIC DISORDERS tumour, congenital Differential diagnosis: Bibliography Ivemark syndrome 28131 12550 22380 23890 23880 24175 24550 Bonnemann-Meinecke syndrome hydrolethalus syndrome renal-hepatic-pancreatic syndrome situs inversus viscerum situs inversus-heart defects-splenic defects splenic hypoplasia-absence Stormorken syndrome OMIM ID: 208530 Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.1124,2007 Page 2 of 2
