Table 1

Clinical and radiological features in nine DMC families

	Families
	1	2	3	4	5	6	7	8	9
N: normal; ?: not available; L: Lebanon; M: Morocco; P: Portugal; T: Tunisia.
Ethnic origin	M	M	M	M	P	M	T	M	L
Consanguinity	1/16	1/16	1/16	1/64	1/16	1/16	1/16	0	0
Clinical features
Affected children	3	2	1	3	1	1	2	2	1
Growth retardation	<−3 SD	−4 SD	<−3 SD	−4 SD	<−3 SD	<−3 SD	<−3 SD	<−3 SD	<−3 SD
Microcephaly	+	+	+	+	+	−	+	+	+
Facial dysmorphism	+	−	+	−	+	−	+	+	+
Thoracic anomalies	+	+	+	+	+	+	+	+	+
Scoliosis	+	+	+	−	+	+	+	+	+
Rhizomelic dwarfism	+	+	+	+	+	+	+	+	+
Mental retardation	++	++	+	++	+	+++	++	++	+
Radiological features
Platyspondyly	+	+	+	+	+	+	+	+	+
Epiphyseal dysplasia	+	+	+	+	+	+	+	+	+
Metaphyseal dysplasia	+	+	+	+	+	+	+	+	+
Lacy appearance of the iliac crests	+	+	+	+	+	+	+	+	+
Urinary keratan sulphate excretion	?	N	?	?	?	N	N	N	N