Ritscher-Schinzel cardio-cranio-cerebellar (3C) syndrome: Report of three new cases

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...

Cerebellar hemorrhage after supratentorial craniotomy--report of three cases.

We report on three cases of remote cerebellar hemorrhage after supratentorial craniotomy, which had much in common in their computed tomographic, operative, and clinical findings. We speculate that, when the patient is in the supine position, displacement of the cerebellum causes stretching of the superior vermian veins and their tributaries, resulting in tearing of these vessels. Postoperative...

Smith-Magenis syndrome: a new contiguous gene syndrome. Report of three new cases.

Interstitial deletion of the short arm of chromosome 17 was detected in three patients. They all had a similar phenotype with mental retardation, behavioural problems, facial dysmorphism, brachycephaly, a broad face with a flat midface, and short and broad hands. All three cases were ascertained over a six month period by two neuropaediatricians aware of this specific anomaly, which suggests th...

shwachman syndrome. report of three cases

shwaehman syndrome, next to cystic fibrosis, is the second cause of congenita! exocrine pancreatic insufficiency in children. it appears as steatorrhea, recurrent infections and hematologic abnormalities such as neutropenia, skeletal dysplasia and short stature. in this study, we reviewed 3 patients' histories. all of them showed cellular chemotaxic defect. one of them had been affected by neph...