6533b832fe1ef96bd129ad9b
RESEARCH PRODUCT
BARDET-BIEDL SYNDROME – CASE PRESENTATION
Heleen H. ArtsDana FintinaSorin Ioan IurianHan Brunnersubject
congenital hereditary and neonatal diseases and abnormalitiesPediatricsmedicine.medical_specialtyPolydactylyobesity (overweight)Retinal dystrophybusiness.industryRGeneral MedicineCase presentationpolydactylyOverweightmedicine.diseasePediatricsRJ1-570nervous system diseasesDevelopmental psychologyBardet–Biedl syndromemedicineMedicinemedicine.symptombusinessbardet-biedl syndromedescription
Bardet-Biedl syndrome (autosomal-recessive inheritance) is characterized by obesity, retinal dystrophy, polydactyly and mental retardation. The authors emphasize the necessary steps in order to establish the diagnosis for an infant with overweight, polydactyly and hypo-genitalism.
| year | journal | country | edition | language |
|---|---|---|---|---|
| 2015-09-30 | Romanian Journal of Pediatrics |