A case of Ritscher-Schinzel syndrome or 3C syndrome

Ritscher – Schinzel Syndrome – 3C (Cranio- Cerebello-Cardiac) Syndrome: Case Report

Radiographic characterization of the hands in Ritscher-Schinzel/3-C syndrome

ABSTRACT Ritscher-Schinzel Syndrome (RSS) is a clinically variable, autosomal recessive disorder, involving cardiac, cerebellar and craniofacial abnormalities. Numerous reports describe hand changes in RSS patients; however, a detailed characterization of the hands has not previously been performed. OBJECTIVE The purpose of this study was to identify whether specific radiographic hand changes...

The Schinzel-Giedion syndrome.

Bernard-Soulier syndrome or idiopathic thrombocytopenic purpura: A case series

Background: Bernard-Soulier syndrome (BSS) is a rare, autosomal recessive platelet function disorder which is commonly mistaken for idiopathic thrombocytopenic purpura (ITP).The report includes seven cases of BSS that have been diagnosed and treated as ITP for a long time. Methods: Between 2006 and 2016, data of seven BSS patients who have long been diagnosed and treated as ITP were collected ...

Schinzel-Giedion midface retraction syndrome

Other names: Schinzel-Giedion syndrome. Note: The use of the long form of the name, SchinzelGiedion midface retraction syndrome, is preferred to prevent confusion with Schinzel ulnar-mammary syndrome, a completely unrelated and clinically nonoverlapping condition also described by Dr Schinzel. Inheritance: Schinzel-Giedion midface retraction syndrome is presumed to be inherited as autosomal rec...