Country of origin | Pakistan | Pakistan | Pakistan | Italy | France | Italy | Italy | Belgium |
Degree of parental consanguinity | First cousins | First cousins | First cousins | First cousins | First cousins | Distant? | None known | None known |
Sex | Female | Male | Male | Male | Male | Male | Female | Female |
Age (months) | 39 | Termination 21+/40 | Miscarriage 20/40 | 33 | 132 | 55 | 41 | 118 |
Length at birth (cm) | 44 (at 34/40) | 29 | 24 | 40 | Not known | 49 | 46 | 51 |
Birth weight (g) | 1965 (at 34/40) | 643 | 242 | 2490 | 3310 | 3560 | 3150 | 3200 |
Short horizontal ribs & narrow thorax | + | + | + | + | + | + | + | +/− hypoplastic right thorax; left side only mildly affected |
Short limbs (upper/lower) | +/+ | −/− mild bowing of humeri & femora | −/+ | +/+ | +/+ | −/+ shortening
of femora | +/+ | +/+ |
Trident acetabulum, (with medial/lateral spurs) | Not known | + | + | + | + | + | + | + |
Bilateral postaxial polydactyly (hands/feet) | −/− | −/− | −/− | −/− | −/− | −/− | +/+ | +/− |
Respiratory problems in neonatal period | + | N/A | N/A | − | + | + | − | − |
Liver function | Normal | Abnormal ductal plates in liver | No abnormalities detected | Normal | Neonatal conjugated hyperbilirubinaemia; biliary cirrhosis at 25 months | Normal | Normal | Normal |
Renal function | Normal | Mild dilatation of some tubules | No abnormalities detected | Normal | Normal | Normal | Normal | Normal |
Ophthalmological findings | Rod/cone dystrophy
at 9 months | N/A | N/A | Normal | Normal | Normal | Normal | Retinal dystrophy at 66 months |
Other findings | Handlebar shaped clavicles | Hypoplastic middle phalanges of hands | Short middle
phalanges | Chest circumference below 3rd centile | | | | Cone shaped epiphyses of phalanges |