Lawrence Moon Biedl Bardet, a polymorphic syndrome
Faraci, C.; Galmozzi, A.; Sesini, E.; Ianniello, A.; Milesi, S.; Saija, A.
La Pediatria Medica e Chirurgica Medical and Surgical Pediatrics 6(4): 529-534
1984
ISSN/ISBN: 0391-5387 PMID: 6442772 Document Number: 239915
The Laurence Moon Biedl Bardet syndrome is a polymorphous disease whose pathogenesis is still obscure. It is characterize by obesity, oligophrenia, polidactylia, retinitis pigmentosa, hipogonadism, but often there are various others symptoms. AA describe two cases. After a short explanation of de main features of this disease, they dwell upon the study of clinical objective symtomatology and upon instrumental and laboratory parameters regarding hormonal, metabolic and functional order of various organs and apparatuses. Both cases present all classic symptoms of this disease. In the first case we have noticed a deficit in LH and FSH, besides we have also noticed an asymmetry of the lateral ventricles of the brain prevalently on the right and a small increase in 17-KS and 17-OH-KS urinary. On the contrary in the second case we have noticed an EEG of epileptic type.