Ritscher–Schinzel cranio-cerebello-cardiac syndrome

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

Cerebello-Cardiac) Syndrome: Case Report

Ritscher-Schinzel syndrome was first described 1987, in the case of two sisters of healthy parents who have had posterior fossa malformations, congenital heart defects and craniofacial anomalies (5). It is believed that this is an autosomal recessive hereditary disorder. So far, according to ORD data (Office of Rare Disease of the National Institutes of Health), only about 30 cases are reported...

Dental and cranio-facial aspects of Williams Syndrome

Williams Syndrome is a rare genetic disorder caused by a hemizygote micro-deletion mapped to the long arm of chromosome 7.The main symptoms are a distinctive facial appearance, psychomotor retardation with friendly behaviour and cardiovascular malformations. This case report describes the anomalies of the cranio-facial complex and the cephalometric aspects which are characteristic of this syndr...

A possible cranio-oro-facial phenotype in Cockayne syndrome

BACKGROUND Cockayne Syndrome CS (Type A - CSA; or CS Type I OMIM #216400) (Type B - CSB; or CS Type II OMIM #133540) is a rare autosomal recessive neurological disease caused by defects in DNA repair characterized by progressive cachectic dwarfism, progressive intellectual disability with cerebral leukodystrophy, microcephaly, progressive pigmentary retinopathy, sensorineural deafness photosens...

Successful cranio-cervical fusion in a patient with Down syndrome.

We present a patient with Down syndrome with neck pain and severe cervical myelopathy. Imaging revealed occipito-atlantal and atlanto-axial instability with severe spinal cord compression. There are no standardized radiological or clinical guidelines to aid in managing this unique subset of patients. We demonstrate a successful occiput-C3 internal fixation and fusion without complication. Due t...