Table 1

Radiographic and clinical features of probands A to H

	Proband
	A	B	C	D	E	F	G	H
+ denotes presence and − denotes absence of a feature; N/A not applicable.
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