550 A NEW FAMILIAL DYSMORPHIC SYNDROME

New dysmorphic features in Rubinstein-Taybi syndrome.

We report a new case of Rubinstein-Taybi syndrome with a hypoplastic right kidney, persistent pulmonary hypertension, and mitral valve regurgitation. Other pertinent features included broad thumbs, broad big toes, syndactyly of the third and fourth fingers bilaterally, beaked nose, broad columella of the nose, patent ductus arteriosus, and motor and mental retardation. The testes were descended...

A Patient with Interstitial 5q21 Deletion, Familial Adenomatous Polyposis, Dysmorphic Features, and Profound Neurologic Dysfunction

     Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant cancer syndrome, results from germ line mutation or deletion of the Adenomatous Polyposis Coli (APC) gene on chromosome 5q21. Patients with FAP suffer from multiple polyps mainly at the colorectal region as well as other parts of the gastrointestinal tract, which has propensity to transform into carcinoma. FAP has also...

A new heredo-familial neurological syndrome.

This report describes a family in which a heredofamilial neurological disorder of unusual type appears to have been transmitted from an affected father to at least five of his children. The main features of the condition consisted of athetosis, hypotonia, absent tendon reflexes, extensor plantar responses, mental retardation and periodic febrile attacks occurring simultaneously in several membe...

New 550-kV Gas-insulated Switchgear

OVERVIEW: Hitachi has developed smaller and more reliable gas-insulated switchgear (GIS) in response to demands for lower costs and stable power supplies. Reliability of this GIS was improved and the enclosure diameter was reduced in order to minimize the installation space by using new analysis techniques and rationalization in insulation design and in temperature rise criteria. Furthermore, t...

Cerebro-costo-mandibular syndrome. A new familial developmental disorder.