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564 results found

Yunis-Varón syndrome

Yunis Varón syndrome is a rare skeletal dysplasia. It is thought to be autosomal recessive. Radiographic features severe neurologic impairment cleidocranial dysplasia absent clavicles macrocrania diastasis of sutures micrognathia absent thumbs and distal phalanges of fingers hypoplasia ...

Zellweger syndrome

Zellweger syndrome (ZS), also known as the cerebrohepatorenal syndrome, is a multisystem metabolic abnormality. As the name implies it primarily affects the central nervous system, liver and kidneys.  Epidemiology The condition typically presents in neonates with poor feeding and/or seizures. ...

Zimmerman-Laband syndrome

Zimmerman-Laband syndrome is a rare congenital syndrome, characterized primarily by gingival hypertrophy and skeletal abnormalities.  Pathology The molecular basis of the syndrome is currently unknown. An autosomal dominant mutation with a high mutation rate and rare instances of germinal mosa...

Zinner syndrome

Zinner syndrome is a triad of mesonephric (Wolffian) duct anomalies comprising unilateral renal agenesis, ipsilateral seminal vesicle cyst, and ejaculatory duct obstruction 1. Clinical presentation Patients are typically diagnosed during the 3rd or 4th decade of life and often present with per...

Zollinger-Ellison syndrome

Zollinger-Ellison syndrome (ZES) is a clinical syndrome that occurs secondary to a gastrinoma.  Clinical presentation Diagnosis of ZES is often delayed by 5-7 years after the onset of symptoms 2.  Pathology Gastrinomas are usually multiple and typically located in the duodenum (more common) ...

Zuelzer-Wilson syndrome

Zuelzer-Wilson syndrome, also known as total colonic aganglionosis, is a subset of Hirschsprung disease, in which the whole colon is aganglionic. Epidemiology It is uncommon and accounts for 2-13% of cases of Hirschsprung disease 3,7. Compared with Hirschsprung disease which has a marked male ...

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