[Lawrence Moon Biedl Bardet, a polymorphic syndrome].
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.
D002648:Child; D005260:Female; D005385:Fingers / Q000002:abnormalities; D005640:Follicle Stimulating Hormone / Q000097:blood; D006801:Humans; D007849:Laurence-Moon Syndrome / Q000097:blood / Q000175:diagnosis* / Q000473:pathology; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D009765:Obesity / Q000209:etiology
D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone
Laurence Moon Biedl Bardet, una sindrome polimorfa.