Case Report
Bangladeshi Case Series of Bardet–Biedl Syndrome
Table 1
Diagnostic criteria for Bardet–Biedl syndrome (BBS).
| | Case 1 | Case 2 |
| Primary features | | | Truncal obesity (72-92%) | + | + | Polydactyly (63-81%) | + | + | Retinitis pigmentosa/retinal dystrophy (93%) | + | + | Learning disabilities (61%) | + | + | Renal malformations (53%) | — | — | Genital abnormalities (female) (59-98%) | — | — | Hypogonadism (male) (59-98%) | — | + | Secondary features | | | Strabismus/cataract/astigmatism | — | + | Speech disorders/delay (54-81%) | + | + | Developmental delay (50-91%) | + | + | Brachydactyly/syndactyly (6-100%) | + | + | Behavioral disorders | + | + | Diabetes mellitus (6-48%) | — | + | Polyuria/polydipsia (diabetes insipidus) | + | — | Left ventricular hypertrophy (LVH) | + | — | Congenital cardiac abnormalities | — | — | Hepatic fibrosis | — | — | Craniofacial dysmorphism (51%) | — | — | Dental crowding/high-arched palate/hypodontia/small roots | — | — | Hirschprung disease | — | — | Ataxia/poor coordination (40-86%) | — | — |
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