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Bardet-Biedl syndrome with syndrome X: a patient report
- Source :
- Journal of pediatric endocrinologymetabolism : JPEM. 17(6)
- Publication Year :
- 2004
-
Abstract
- Bardet-Biedl syndrome (BBS) is an autosomal recessive condition with a wide spectrum of clinical features. The principal manifestations are rod-cone dystrophy (sometimes called atypical retinitis pigmentosa), postaxial polydactyly, central obesity, mental retardation, hypogonadism, and renal dysfunction. The clinical diagnosis of syndrome X defines a patient with abnormal glucose metabolism, hypertension, hyperlipidemia and obesity. We report here a 15 year-old girl with BBS presenting with syndrome X.
- Subjects :
- Postaxial polydactyly
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Pediatrics
Abnormal glucose
genetic structures
Adolescent
Endocrinology, Diabetes and Metabolism
Endocrinology
Bardet–Biedl syndrome
Internal medicine
Retinitis pigmentosa
medicine
Humans
Bardet-Biedl Syndrome
Metabolic Syndrome
business.industry
Dystrophy
Chromosome Mapping
medicine.disease
Obesity
Pediatrics, Perinatology and Child Health
Female
sense organs
Patient report
business
Syndrome x
Subjects
Details
- ISSN :
- 0334018X
- Volume :
- 17
- Issue :
- 6
- Database :
- OpenAIRE
- Journal :
- Journal of pediatric endocrinologymetabolism : JPEM
- Accession number :
- edsair.doi.dedup.....7f9491f397aa58268c12454554f796aa