Heterotaxy syndrome with left atrial isomerism and polysplenia is a unique entity: a case report
Egyptian Journal of Chest Disease and Tuberculosis, 2021 A state of a patient with heterotaxy syndrome with polysplenia was indiscriminately diagnosed through visualized estimation (computed tomography and pelviabdominal ultrasound) regardless of the pathological state.
Rana El-Helbawy +2 more
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Heart transplantation in children with congenital heart disease [PDF]
, 1932 ObjectivesThe aim of this study was to describe heart transplantation in children with congenital heart disease and to compare the results with those in children undergoing transplantation for other cardiac diseases.BackgroundReports describe decreased ...
Daphne T. Hsu +30 more
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Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants [PDF]
, 2012 BACKGROUND: Left ventricular hypertrabeculation/noncompaction (LVHT) is a cardiac abnormality of unknown etiology which has been described in children as well as in adults with and without chromosomal aberrations.
Bert Nagel +5 more
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Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome [PDF]
, 2003 Primary ciliary dyskinesia (PCD), also referred to as immotile-cilia syndrome or Kartagener syndrome, is a group of genetic disorders caused by defective cilia leading to chronic sinupulmonary infection, situs inversus and reduced fertility.
Afzelius +29 more
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Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi syndrome [PDF]
, 2013 Rubinstein-Taybi syndrome is a rare autosomal dominant congenital disorder characterized by postnatal growth retardation, psychomotor developmental delay, skeletal anomalies, peculiar facial morphology, and tumorigenesis.
Calì,F +8 more
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Aortic pseudocoarctation associated with polysplenia/heterotaxy syndrome
Revista Portuguesa de Cardiologia, 2015 Polysplenia/heterotaxy syndrome is a rare congenital disorder associated with a wide spectrum of anomalies in various organ systems. Although anomalies of the cardiovascular system are common in this syndrome, the authors report a rare case of ...
Ricardo Duarte, Humberto Morais
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An approach to familial lymphoedema. [PDF]
, 2017 Lymphoedema is the build-up of lymphatic fluid leading to swelling in the tissues. Most commonly it affects the peripheries. Diagnosis is based on clinical assessment and imaging with lymphoscintigraphy. Treatment is supportive with compression garments,
Atton +4 more
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Anomalies of Abdominal Organs in Polysplenia Syndrome: Multidetector Computed Tomography Findings
대한영상의학회지, 2016 Polysplenia syndrome is a rare situs ambiguous anomaly associated with multiple spleens and anomalies of abdominal organs. Because most of the minor anomalies do not cause clinical symptoms, polysplenia syndrome is detected incidentally in the adults ...
Sungwon Kim, Yong Seok Lee, Jin-Hee Jung
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CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes [PDF]
, 2015 CHD is frequently associated with a genetic syndrome. These syndromes often present specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri-operative risks affecting multiple organ systems.
Cooper, David S. +2 more
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Clinical implications of congenital interruption of inferior vena cava
Journal of the Formosan Medical Association, 2022 Background/purpose: Inferior vena cava (IVC) interruption is rare and can be detected through prenatal or postnatal imaging. It usually occurs in patients with heterotaxy syndrome with bilateral left-sidedness (left isomerism or polysplenia syndrome ...
Shyh-Jye Chen, Mei-Hwan Wu, Jou-Kou Wang
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