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%)	—	—