0000000000790535

AUTHOR

Sorin Ioan Iurian

showing 1 related works from this author

BARDET-BIEDL SYNDROME – CASE PRESENTATION

2015

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.

congenital hereditary and neonatal diseases and abnormalitiesPediatricsmedicine.medical_specialtyPolydactylyobesity (overweight)Retinal dystrophybusiness.industryRGeneral MedicineCase presentationpolydactylyOverweightmedicine.diseasePediatricsRJ1-570nervous system diseasesDevelopmental psychologyBardet–Biedl syndromemedicineMedicinemedicine.symptombusinessbardet-biedl syndromeRomanian Journal of Pediatrics
researchProduct