Table 1

Clinical features of the 21 LWD families and results of the mutation analysis

			Proband
Family code	Italian area* and city	No of patients analysed in the family	Sex (F/M)	Age (y)	Family history†	Upper/lower segment ratio	Height (cm)	Centiles	Madelung deformity	Mutation
*N=northern Italy; C=central Italy; S=southern Italy.
†F=familial; S=sporadic.
1	N (Parma)	2	F	10, 2	F	1.30	126.2	4	+	Deletion
2	S (Messina)	2	F	6, 4	F	1.40	110.8	6	+	497 T-C
3	N (Torino)	2	M	13, 7	F	1.24	148.0	8	+	Deletion
4	N (Torino)	1	F	12, 9	S	1.40	140.9	6	+	Deletion
5	N (Bolzano)	2	F	5, 1	F	1.26	95.5	0.6	+	Deletion
6	N (Bolzano)	2	M	10, 9	F	1.22	131.0	5	+	465 del C
7	N (Brescia)	2	F	6, 1	F	1.20	101.0	0.6	+	None
8	C (Chieti)	1	F	9, 1	S	1.32	117.4	0.9	+	Deletion
9	N (Milano)	3	F	8, 7	F	1.37	112.0	0.2	+	Deletion
10	N (Torino)	2	F	12, 8	F	1.18	141.1	7	+	None
11	S (Messina)	2	F	10, 4	F	1.36	119.0	0.1	+	Deletion
12	N (Milano)	2	F	3, 3	F	1.30	84.5	0.3	+	None
13	C (Roma)	2	F	13, 5	F	1.34	145.5	1.3	+	None
14	C (Roma)	2	M	15, 7	F	1.17	166.5	22	+	None
15	S (Napoli)	2	F	17, 7	F	1.16	151.9	4	+	None
16	N (Pavia)	3	F	13, 4	F	1.29	145.5	1.5	+	Deletion
17	S (Bari)	3	F	15, 3	F	1.20	149.0	1.5	+	548 C-G
18	S (Catanzaro)	2	F	9, 4	F	1.25	120.1	1.6	+	Deletion
19	S (Napoli)	2	F	8, 5	F	1.24	119.0	6	+	Deletion
20	S (Avellino)	2	F	16, 0	F	1.20	150.2	2.3	+	None
21	C (Chieti)	1	F	10, 4	S	1.18	135.0	30	+	None