3C (Ritscher-Schinzel) Syndrome with a Rare Sign: Hypospadias

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.

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...

The telecanthus-hypospadias syndrome.

The telecanthus-hypospadias (BBB) syndrome is characterised by widely spaced inner ocular canthi and hypospadias of variable degree. Heterozygous females have telecanthus. We have summarised the historical and phenotypic findings of 21 patients in seven previous publications. We have also had the opportunity to evaluate personally 12 families with a total of 18 affected males. The most frequent...