Left ventricular hypertrabeculation/noncompaction with epilepsy, other heart defects, minor facial anomalies and new copy number variants [PDF]
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
core +1 more source
Infantile Bowel Obstruction in a Patient with Situs Inversus Totalis and Polysplenia: A Case Report
Abdullahi Yusuf Ali,1 Ahmet Biyikli,1 Abdishakur Mohamed Abdi,1 Ilkay Guler2 1Department of Pediatric Surgery, Somalia Turkish Training and Research Hospital, Mogadishu, Somalia; 2General Directorate of Public Hospitals, Ministry of Health of Republic of
Yusuf Ali A, Biyikli A, Abdi AM, Guler I
doaj
Biliary atresia is a destructive, idiopathic, and inflammatory cholangiopathy that affects intra and extra-hepatic bile ducts leading to fibrosis and obliteration of the biliary tract and development of liver cirrhosis.
Evalyne Tukwasibwe +3 more
doaj +1 more source
Inflammation, Active Fibroplasia, and End-stage Fibrosis in 172 Biliary Atresia Remnants Correlate Poorly With Age at Kasai Portoenterostomy, Visceral Heterotaxy, and Outcome [PDF]
Published histologic studies of the hilar plate or entire biliary remnant at the time of Kasai portoenterostomy (KHPE) have not provided deep insight into the pathogenesis of biliary atresia, relation to age at surgery, prognosis or the basis for ...
Arva +32 more
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A CASE OF COR BILOCULARE ACCOMPANIED BY POLYSPLENIA [PDF]
The clinical history and necroscopic fi ndings of a 3 -} year old girl - involved in cor biloculare was reported. In th is case dextrotransposition of the great a rteries and polysplenia was observed. The majority of cor biloculare cases appearing in the
M. S. ROJHAN
doaj +2 more sources
Mild fetal cerebral ventriculomegaly as a prenatal sonographic marker for Kartagener syndrome [PDF]
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
core +1 more source
Polysplenia is a congenital condition characterized by the presence of multiple small accessory spleens with absent of primary spleen. While polysplenia may occur in isolation or may be present as part of Polysplenia syndrome.
Jayeshkumar Kanani +1 more
doaj +1 more source
Anomalies of Abdominal Organs in Polysplenia Syndrome: Multidetector Computed Tomography Findings
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
doaj +1 more source
Anatomy, embryology, and imaging of situs ambiguous with polysplenia and left IVC
The situs ambiguous or heterotaxy syndrome is a type of syndrome that involves multiple visceral abnormalities, vascular ones and associated with left isomerism.
Rosa Montero-Macías, MD +4 more
doaj +1 more source
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]
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
core +1 more source

