BACKGROUND Abernethy malformation is a very rare congenital vascular malformation defined by diversion of portal blood away from liver. It is commonly associated with multiple congenital anomalies. We present a case of Abernethy malformation, without associated congenital anomalies from India. CASE PRESENTATION A 5-year-old female child presented with short history of jaundice. A provisional ...

Holt Oram Syndrome (HOS) falls in rare prevalence category with probability of 0.7 100,000 live births. It is a autosomal dominant multiple malformation syndrome characterized by abnormalities affecting hands, wrists, arms,congenital heart defects and/or conduction problems. Genetic mutations observed TBX5 gene attributed as the main cause HOS. Our patient his late 40s was diagnosed Syndrome. H...

Congenital heart defects and skeletal malformation syndrome is very rare syndrome. Most of the patients had germline mutations in ABL1 gene. A 30-year-old gentleman presented with history congenital disease (ventricular septal defect) malformations which are typical CHDSKM. Patient also hemiplegia CHDSKMS. lactose intolerance since childhood. Patients were evaluated thoroughly to rule out other...

Although persistent left superior vena cava (PLSVC) itself is a common venous anomaly in congenital heart disease, PLSVC with absent right superior vena cava (RSVC) is a rare venous congenital malformation. Due to the lack of symptoms, this malformation is often detected fortuitously when patients undergo central venous catheter placement, pacemaker implantation, or open cardiac surgery. This p...

chiari malformation type i (cm-i) is a congenital disorder, which is basically a tonsillar herniation (≥ 5 mm) below the foramen magnum with or without syringomyelia. the real cause behind this malformation is still unknown. patients may remain asymptomatic until they engender a deteriorating situation, such as cervical trauma. the objective of this case report is to give a broad perspective on...

BACKGROUND Congenital malformations in sea turtles have been considered sporadical. Research carried out in the Mexican Pacific revealed high levels of congenital malformations in the olive ridley, but little or no information is available for other species. We present results from analyses of external congenital malformations in olive ridley, green, and hawskbill sea turtles from Mexican rooke...

Congenital vascular malformation represents a group of anomalous vascular structures caused by defective development through various stages of embryogenesis. In 1988 a workshop for this unique field of vascular pathology was held in Hamburg, Germany, and new classification was evolved on the basis of consensus through this workshop. Congenital vascular malformations are now classified based on ...

Background: Congenital Zika virus (SCZV) infection is associated with a spectrum of severe neurological abnormalities, mainly microcephaly, and central nervous system malformation. In this way, it becomes relevant to know the main alterations that accompany SCZV in Ceará.

Sirenomelia also called mermaid syndrome is a congenital, rare, lethal, multisystemic human malformation of unknown etiology. The characteristic feature sirenomelia the fusion lower limbs, resulting in appearance mermaid’s tail, and thus name “mermaid syndrome.” This condition characterized by various severe urogenital abnormalities presence singular umbilical cord blood vessel, it more common ...

Congenital portosystemic shunts (CPSS) are rare congenital vascular anomalies associated with partial or complete diversion of the portal blood into systemic circulation. extrahepatic (CEPSS) termed Abernethy malformation. This pathology is a diagnostic challenge due to its low incidence and variable clinical presentations. We report case malformation Type Ib in 15-year-old male long-standing h...