Table 1.
Clinical and Pathological Findings Observed in Patients
|
Finding in Patient (Family)a |
|||||||||||||||||
| Trait | 1 (FRA) | 2a (LER) | 2b (LER) | 3 (KAY) | 4 (BAL) | 5a (BOU) | 5b (BOU) | 6 (FIL) | 7 (CRE) | 8 (COL) | 9a (AKI) | 9b (AKI) | 10 (STA) | 11 (AND) | 12 (KAL) | 13a (MOU) | 13b (MOU) |
| Consanguinity | − | − | − | + | + | + | + | − | − | − | + | + | − | − | + | − | − |
| National origin | France | France | France | Turkey | Turkey | Tunisia | Tunisia | France | France | France | Turkey | Turkey | France | France | Algeria | France | France |
| Ageb | 28 wk | 2 d | 22 wk | 26 wk | 26 wk | 26 wk | 12 d | 24 wk | 12 years | 32 wk | 32 wk | ? | 27 wk | 37 wk | 25 wk | 29 wk | 18 wk |
| Brain: | |||||||||||||||||
| Anomalyc | − | − | + | − | + | + | ? | − | − | − | + | ? | − | + | + | + | + |
| Supratentorial | VD | CCA | CCH, Arh | ||||||||||||||
| Infratentorial | Nect | DWM | ME | DWM | DWM | ME, DWM | OD,DWM | ||||||||||
| Hand polydactyly | −/− | −/− | +/− | −/− | +/+ | −/− | −/− | +/+ | +/+ | −/− | −/− | −/− | +/+ | −/− | +/+ | +/+ | −/− |
| Foot polydactyly | +/− | −/− | +/+ | +/+ | +/+ | −/− | +/− | +/+ | +/− | +/+ | −/− | −/− | +/− | −/− | +/+ | −/− | −/− |
| Kidney anomalyc | + | Enlargedd | + | + | + | + | + | + | + | Enlarged | + | + | + | + | + | + | + |
| Pathology | MC | NA | MKL | MKL | MC | MKL | NA | MKS | Failure | Normal | MC | NA | MC | MC | MKL | MC | MC |
| Portal fibrosis | − | NA | + | + | − | + | NA | − | NA | − | + | NA | − | + | − | − | − |
| BDP | − | NA | − | − | − | + | NA | − | NA | − | + | NA | − | − | − | − | +/− |
| Heart defect | − | − | − | − | − | − | + | − | − | − | + | NA | − | − | |||
| Other defects | − | − | + | − | − | + | NA | − | + | + | − | NA | − | − | |||
| Initial diagnosis | BBS | ? | MKS | MKL | MKL | MKS | MKS | MKL | BBS | BBS | MKS var | MKS var | BBS | Ago/Gold | MKS | Ago,MKS var | Ago,MKS var |
| BBS mutation(s) | 2 Htz BBS2 +1 BBS4 | 1 HtzBBS2 | 2 HtzBBS2 | 1 HmzBBS2 | 1 HmzBBS4 | NoneBBS4 | 1 HmzBBS4 | 2 HtzBBS6 | 1 HtzBBS6 | 1 HtzBBS6 | NoneBBS6 | 1 HtzBBS6 | |||||
a
+ = present; − = absent; ? = unknown; NA = not available; Ago = Agostino syndrome; Arh = arhinencephaly; BDP = bile-duct proliferation; CCA = corpus callosum agenesis; CCH = corpus callosum hypoplasia; Gold = Goldston syndrome; Htz = heterozygous mutation; Hmz = homozygous mutation; ME = meningocele; MC = medullary cysts; MKL = Meckel-like; Nect = neuronal ectopias; OD = occipital defect; var = variant; VD = ventricular dilatation.
b
Wk indicates weeks of gestation.
c
Detected on ultrasound examination.
d
Enlarged left kidney.