Table 1

Radiographic and clinical features of probands A to H

+ denotes presence and − denotes absence of a feature; N/A not applicable.
Country of originPakistanPakistanPakistanItalyFranceItalyItalyBelgium
Degree of parental consanguinityFirst cousinsFirst cousinsFirst cousinsFirst cousinsFirst cousinsDistant?None knownNone known
Age (months)39Termination 21+/40Miscarriage 20/40331325541118
Length at birth (cm)44 (at 34/40)292440Not known494651
Birth weight (g)1965 (at 34/40)64324224903310356031503200
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/AN/A++
Liver functionNormalAbnormal ductal plates in liverNo abnormalities detectedNormalNeonatal conjugated hyperbilirubinaemia; biliary cirrhosis at 25 monthsNormalNormalNormal
Renal functionNormalMild dilatation of some tubulesNo abnormalities detectedNormalNormalNormalNormalNormal
Ophthalmological findingsRod/cone dystrophy 
 at 9 monthsN/AN/ANormalNormalNormalNormalRetinal dystrophy at 66 months
Other findingsHandlebar shaped claviclesHypoplastic middle phalanges of handsShort middle 
 phalangesChest circumference below 3rd centileCone shaped epiphyses of phalanges