Table 2

Major features in 39 Dutch patients with CdLS, depending on the result of the molecular studies (middle three columns) and the clinical phenotype (last three columns)

Feature	Total	Molecular findings			Clinical phenotype
Feature	Total	Truncating mutations	Missense mutations	No mutations	Classic type	Mild type	Possible CdLS
p<0.05; *p<0.01.
Number of patients	39	19	5	15	27	8	4
Sex (M/F)	19/20	13/6	1/4	6/9	14/11	6/1	1/3
Mean weight (g) at birth (M/F)	2454/2234	2377/ 1842	3100/2433	24602461	2277*/1967	2716/ 2600	2650/ 3000
Mean adult weight (kg)	50.91	38.97**	66.6	56.98	42.05	51.4	68.5
Mean adult height (m)	1.44	1.42	1.47	1.48	1.26*	1.53	1.35
Postnatal growth
>P75	7	2	2	3	1	4	2
P25−P75	19	9	3	8	15**	2	2
<P25	8	6	1	1	7**	0	0
Skull growth
>−2SD	6	2	1	3	2	2	2
<−2SD and >−4SD	17	7	4	6	10	4	1
<−4SD	12	7	0	5	10**	1	1
Limb
No reduction defect	31	9	5	17	20	6	4
Partial reduction defect	1	1	0	0	1	0	0
Severe reduction defect	5	4	0	1	4	1	0
Face
Classic type	27	17	3	7
Mild type	8	2	2	4
Possible CdLS	4	0	0	4
VABS
Normal/borderline	0	0	0	0	0	0	0
Mildly/moderately impaired	11	6	0	5	5	3	2
Severely/profoundly impaired	25	12	4	9	18**	5	2
DISCO
Autism	24	13	2	9	20**	1	2
No autism	12	5	2	5	3	6	2
DBC
Autism	22	10	2	10	16	3	2
No autism	14	7	3	4	7	4	2