Polysplenia syndrome complicated with posterior nutcracker syndrome
Binglin Lai +2 more
doaj +3 more sources
Syndromic variants of biliary atresia [PDF]
Biliary atresia (BA) may be characterized as an obliterative cholangiopathy presenting in the newborn period with conjugated jaundice, pale stools, and dark urine. It is usually thought of as an isolated anomaly in otherwise normal infants. However, in a
Mark Davenport
doaj +2 more sources
Splenic torsion in the setting of polysplenia syndrome
Background: Polysplenia syndrome is a rare condition that occurs when polysplenia co-exists with various other congenital anomalies. Splenic torsion in the setting of polysplenia syndrome is extremely rare, having been documented only five times ...
Margaret Kennedy +2 more
doaj +1 more source
A Rare Case of Heterotaxy Syndrome Associated with Hepatolithiasis and Pre-duodenal Portal Vein [PDF]
Polysplenia syndrome is characterised by spectrum of abnormalities which are rarely diagnosed in adults as an incidental finding. The anomalies include multiple spleens, midline liver, gall bladder and biliary tract anomalies, short pancreas, agenesis ...
Varna Shetty +2 more
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
Atrioventricular canal defect and genetic syndromes: the unifying role of sonic hedgehog [PDF]
The atrioventricular canal defect (AVCD) is a congenital heart defect (CHD) frequently associated with extracardiac anomalies (75%). Previous observations from a personal series of patients with AVCD and "polydactyly syndromes" showed that the distinct ...
Baban, A +9 more
core +1 more source
Identification of PKD1L1 Gene Variants in Children with the Biliary Atresia Splenic Malformation Syndrome [PDF]
Biliary atresia (BA) is the most common cause of end‐stage liver disease in children and the primary indication for pediatric liver transplantation, yet underlying etiologies remain unknown.
Alonso, Estella M +33 more
core +2 more sources
Fetal heterotaxy with tricuspid atresia, pulmonary atresia, and isomerism of the right atrial appendages at 22 weeks. [PDF]
We report the accurate prenatal diagnosis at 22 weeks gestation of right atrial isomerism in association with tricuspid atresia. Several distinctive sonographic features of isomerism of the right atrial appendages were present in this fetus: complex ...
Richardson, Randy R +3 more
core +2 more sources
Outcome of prenatally diagnosed fetal heterotaxy: A systematic review and meta-analysis. [PDF]
OBJECTIVES: To assess the perinatal outcomes of fetuses affected by heterotaxy. METHODS: Medline, Embase and Cinhal were searched. Only studies reporting a prenatal diagnosis of isomerism were included.
Abuhamad +51 more
core +1 more source
Heterotaxy pattern associated with sinus node dysfunction in an adult: A case report
Key Clinical Message A 26‐year‐old male patient admitted to the hospital ward with experience of repetitive syncopes for a year. The patient was diagnosed with sick sinus syndrome.
Naman Shah +8 more
doaj +1 more source

