Clinical, Genetic, Imaging, and Laboratory Characteristics of Four Paediatric Patients with Bardet-Biedl Syndrome_
| Parameter | Case 1 | Case 2 | Case 3 | Case 4 |
|---|---|---|---|---|
| Sex | Male | Male | Female | Male |
| Gestational age Birth weight | 40 wks 3660 g | 40 wks 4100 g | 41 wks 3010 g | 41 wks 4060 g |
| Genetic findings | MKKS | MKKS | BBS1 | * |
| Prenatal renal US | Enlarged kidneys with cysts | Small dysplastic kidneys | Increased echogenicity of kidneys | Polycystic kidneys suspected |
| Postnatal renal US | Enlarged dysplastic kidneys, absent CMD, cysts | Small dysplastic kidneys | Normal size, absent CMD, small cysts | Small dysplastic kidneys, multiple peripheral cysts, absent CMD |
| Latest renal US | Enlarged kidneys, absent CMD, cysts | Small dysplastic kidneys | Small dysplastic kidneys | Small dysplastic kidneys |
| Serum creatinine at birth (mg/dl) | 1.66 | 0.70 | 1.04 | 1.25 |
| Urea at birth (mg/dl) | 55 | 39 | 42 | 51 |
| Latest serum creatinine (mg/dl) | 0.85 | 1.03 | 0.68 | 0,89 |
| Latest urea (mg/dl) | 24.7 | 46.4 | 26.7 | 42 |
| Polydactyly, obesity | Yes | Yes | Yes | Yes |
| Hypertension | Yes | No | Yes | No |
| Ophthalmological findings | Rod-cone dystrophy | Rod-cone dystrophy | Nyctalopia | Retinal pigment abnormalities |
| Neurodevelopment | Cognitive impairment | Cognitive impairment | Cognitive impairment | Global developmental delay |
| Endocrine / genital anomalies | Hypogonadism | Hypogonadism | Not yet | Hypogonadism |