BARDET-BIEDL SYNDROME
| Autor: | Keith Cg |
|---|---|
| Rok vydání: | 1984 |
| Předmět: |
congenital
hereditary and neonatal diseases and abnormalities education.field_of_study Pediatrics medicine.medical_specialty Polydactyly business.industry Population Pigmentary Retinopathy Disease Audiology medicine.disease Obesity nervous system diseases Ophthalmology Mental deficiency Bardet–Biedl syndrome medicine education business Paraplegia |
| Zdroj: | Australian and New Zealand Journal of Ophthalmology. 12:143-148 |
| ISSN: | 1440-1606 0814-9763 |
| Popis: | The Bardet-Biedl syndrome is characterized by five main features: obesity, polydactyly, pigmentary retinopathy, mental deficiency and hypogonadism; recently a sixth feature, renal disease, has been described. It was formerly known as the Laurence-Moon-Biedl syndrome, but Laurence and Moon described a different entity in which the main feature was paraplegia. Fourteen cases have been seen: all had pigmentary retinopathy which, in most cases, was severe and tended to affect central vision early in life. All had subnormal intelligence, twelve were obese, ten had polydactyly, eight hypogonadism, and two had renal disease. The condition was thought to be rare, but this may have been due to the failure to diagnose incomplete or partial cases. It is suggested that the prevalence is 1:160 000 of the population. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
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