Mild form of Jeune syndrome in two sisters
β Scribed by Giorgi, P. L. ;Gabrielli, O. ;Bonifazi, V. ;Catassi, C. ;Coppa, G. V.
- Publisher
- John Wiley and Sons
- Year
- 1990
- Tongue
- English
- Weight
- 311 KB
- Volume
- 35
- Category
- Article
- ISSN
- 0148-7299
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
## Abstract We report on two sisters with Perrault's syndrome, i.e., autosomal recessive ovarian dysgenesis associated with sensorineural deafness. They were deafβmute and to normal height with a few minor somatic anomalies. Both had streak gonads and an apparently normal female 46,XX chromosome co
Briefly, we described 2 sisters in a family representing manifestations of Wiskott-Aldrich syndrome (WAS). The older sister had suffered from recurrent infections, small-sized thrombocytopenia, petechiase and purpura, and eczema for 7 years. The younger sister had the same manifestations, and died o
## Abstract We describe two sisters with distal, slowly progressive muscular weakness and hypotrophy since childhood, autonomic dysfunction characterized by profuse sweating, distal cyanosis related to cold weather, orthostatic hypotension, and esophageal achalasia. Nerve conduction velocity of sev