| Patients, n |
22 |
7 |
15 |
23 |
54 |
14 |
37 |
| Median age, years |
4.7 |
8.7 |
7.7 |
5 |
|
6 |
9 |
| Age at clinical diagnosis |
1 |
2 |
1.7 |
1 |
|
1.6 |
|
| Median age of mother, years |
32 |
31 |
31 |
31 |
|
33 |
|
| Median age of father, years |
33 |
35 |
32 |
32 |
|
36 |
|
| Antenatal |
|
|
|
|
|
|
|
| Birth weight >90th centile |
9/18 (50) |
3/6 (50) |
5/13 (38) |
9/19 (47) |
|
6/12 (50) |
|
| Polyhydramnios |
11/20 (55) |
3/7 (43) |
10/15 (67) |
12/22 (54) |
|
9/13 (69) |
|
| Nuchal lucency |
4/19 (21) |
2/6 (33) |
1/7 (14) |
14/19 (21) |
|
2/10 (20) |
|
| Caesarean |
5/20 (25) |
3/5 (60) |
2/12 (17) |
3/18 (17) |
|
5/12 (42) |
|
| Hypoglycaemia |
2/17 (12) |
0/6 (0) |
0/9 (0) |
1/19 (5) |
|
1/10 (10) |
9% |
| Hypotonic |
16/19 (84) |
6/6 (100) |
7/10 (70) |
13/19 (68) |
28% |
13/13 (100) |
|
| Failure to thrive |
19/20 (95) |
6/7 (86) |
10/14 (71) |
17/21 (81) |
|
14/14 (100) |
100% |
| Postnatal growth retardation |
14/19 (74) |
5/7 (71) |
9/13 (69) |
13/20 (65) |
|
12/14 (86) |
|
| Splenomegaly |
2/18 (11) |
2/7 (29) |
2/13 (15) |
4/21 (19) |
15% |
1/11 (9) |
|
| Hepatomegaly |
4/20 (20) |
3/6 (50) |
2/13 (15) |
6/21 (29) |
9% |
2/12 (17) |
|
| Growth |
|
|
|
|
|
|
|
| Short stature, <−2SD |
13/21 (62) |
7/7 (100) |
11/15 (73) |
13/23 (56) |
78% |
12/13 (92) |
|
| Median stature, SD |
−2.3 |
−3.2 |
−2 |
−2 |
|
−2.8 |
|
| Heart |
|
|
|
|
|
|
|
| Pulmonic valve stenosis |
11/22 (50) |
3/7 (43) |
3/14 (21) |
6/22 (27) |
|
7/14 (50) |
|
| Atrial septal defect |
5/22 (23) |
2/7 (29) |
3/14 (21) |
6/22 (27) |
|
3/14 (21) |
|
| Hypertrophic cardiomyopathy |
9/22 (41) |
3/7 (43) |
3/14 (21) |
9/22 (41) |
|
4/14 (29) |
51% |
| Arrhythmia |
0/20 (0) |
0/7 (0) |
0/14 (0) |
0/21 (0) |
|
0/13 (0) |
31% |
| Total heart defect |
19/22 (86) |
7/7 (100) |
6/14 (43) |
17/22 (77) |
78% |
9/14 (64) |
63%* |
| Oncology |
|
|
|
|
|
|
|
| Leukaemia |
0/22 (0) |
0/6 (0) |
0/12 (0) |
0/21 (0) |
|
0/12 (0) |
|
| Solid tumour |
0/22 (0) |
0/6 (0) |
0/12 (0) |
0/21 (0) |
|
0/12 (0) |
13.5% |
| Dysmorphism |
|
|
|
|
|
|
|
| Relative macrocephaly |
17/22 (77) |
7/7 (100) |
11/15 (73) |
14/23 (61) |
78% |
14/14 (100) |
91% |
| Microcephaly |
0/22 (0) |
0/7 (0) |
1/15 (7) |
1/23 (4) |
|
0/13 (0) |
|
| Triangular facies |
8/22 (36) |
3/7 (43) |
3/13 (23) |
7/21 (33) |
|
4/14 (29) |
|
| Hypertelorism |
20/22 (91) |
7/7 (100) |
11/15 (73) |
21/23 (91) |
46% |
11/14 (79) |
|
| Downslanting palpebral fissures |
13/22 (59) |
6/7 (86) |
9/14 (64) |
14/22 (64) |
61% |
8/14 (57) |
|
| Ptosis |
9/19 (47) |
6/7 (86) |
8/13 (61) |
12/19 (63) |
52% |
7/13 (54) |
|
| Epicanthal folds |
10/19 (53) |
5/5 (100) |
6/12 (50) |
12/20 (60) |
59% |
5/11 (45) |
|
| Posteriorly angulated ears |
19/22 (86) |
5/7 (71) |
12/14 (86) |
20/22 (91) |
76% |
12/14 (86) |
|
| Thick ears |
19/22 (86) |
5/7 (71) |
9/12 (75) |
19/21 (90) |
30% |
10/13 (77) |
|
| Large earlobes |
17/22 (77) |
2/5 (40) |
10/12 (83) |
17/20 (85) |
|
10/13 (77) |
|
| Low‐set ears |
17/21 (81) |
6/7 (86) |
13/15 (87) |
20/22 (91) |
|
10/14 (71) |
|
| Anteverted nostrils |
10/22 (45) |
3/5 (60) |
8/12 (67) |
12/22 (55) |
|
6/12 (50) |
|
| High cranial vault |
16/21 (76) |
4/6 (67) |
10/13 (77) |
18/21 (86) |
|
7/12 (58) |
|
| Bitemporal constriction |
13/22 (59) |
3/5 (60) |
7/11 (64) |
16/20 (80) |
81% |
5/13 (38) |
|
| Large mouth |
9/22 (41) |
1/6 (17) |
4/13 (31) |
6/21 (29) |
|
8/13 (61) |
|
| Thick lips |
9/22 (41) |
2/7 (29) |
7/13 (54) |
10/21 (48) |
|
8/14 (57) |
|
| Micrognathia |
4/19 (21) |
2/7 (29) |
4/11 (36) |
5/18 (28) |
24% |
2/12 (17) |
|
| Prominent philtrum |
10/29 (50) |
3/7 (43) |
9/12 (75) |
13/20 (65) |
|
6/12 (50) |
|
| Short neck |
20/22 (91) |
6/7 (86) |
11/12 (92) |
20/21 (95) |
50% |
11/13 (85) |
|
| Webbed neck |
13/20 (65) |
6/7 (86) |
6/11 (54) |
13/20 (65) |
41% |
8/12 (67) |
|
| Pterygium colli |
6/22 (27) |
3/7 (43) |
3/12 (25) |
14/20 (70) |
|
4/13 (31) |
|
| Coarse face |
14/21 (67) |
4/7 (57) |
9/12 (75) |
14/20 (70) |
|
12/14 (86) |
|
| Low posterior hairline |
7/20 (35) |
2/5 (40) |
5/9 (55) |
8/17 (47) |
|
4/12 (33) |
|
| Malformations |
|
|
|
|
|
|
|
| Hyperextensible fingers |
10/19 (53) |
4/6 (67) |
8/11 (73) |
10/17 (59) |
13% |
10/14 (71) |
100% |
| Pectus excavatum/carinatum |
10/16 (63) |
4/6 (67) |
11/14 (79) |
11/17 (65) |
|
9/12 (75) |
|
| Skin characteristics |
|
|
|
|
|
|
|
| Curly hairs |
19/22 (86) |
2/7 (29) |
13/15 (87) |
21/23 (91) |
72% |
11/14 (79) |
|
| Sparse hairs |
21/22 (95) |
5/7 (71) |
7/13 (54) |
20/21 (95) |
85% |
10/14 (71) |
|
| Sparse or absent eyebrows |
17/22 (77) |
4/7 (57) |
12/14 (86) |
18/23 (78) |
63% |
12/13 (92) |
|
| Sparse or absent eyelashes |
12/21 (57) |
3/7 (43) |
9/13 (69) |
14/21 (67) |
67% |
9/13 (69) |
|
| Palmoplantar hyperkeratosis |
4/21 (19) |
0/7 (0) |
3/14 (21) |
5/21 (24) |
13% |
2/14 (14) |
|
| General hyperkeratosis |
3/20 (15) |
1/6 (17) |
0/11 (0) |
3/20 (15) |
37% |
1/13 (8) |
|
| Eczema |
1/19 (5) |
0/6 (0) |
2/10 (20) |
1/19 (5) |
|
2/13 (15) |
|
| Deep palmar/plantar creases |
15/21 (71) |
2/5 (40) |
7/10 (70) |
12/19 (63) |
|
11/14 (79) |
|
| Hyperpigmentation |
2/18 (11) |
1/6 (17) |
4/11 (36) |
5/20 (25) |
6% |
2/11 (18) |
|
| Hyperelastic skin |
13/20 (65) |
2/6 (33) |
6/11 (54) |
10/21 (48) |
22% |
9/13 (69) |
|
| Dry skin |
10/19 (53) |
1/6 (17) |
4/10 (40) |
6/19 (32) |
|
7/12 (58) |
|
| Excess skin hands/foot |
9/20 (45) |
2/6 (33) |
5/11 (36) |
6/19 (32) |
9% |
9/14 (64) |
100% |
| Ichytosis |
1/18 (6) |
1/6 (17) |
1/10 (10) |
2/20 (10) |
31% |
1/11 (9) |
|
| Café‐au‐lait patches |
4/20 (20) |
1/6 (17) |
2/13 (15) |
3/20 (15) |
9% |
2/13 (15) |
|
| Naevi >10 |
4/21 (19) |
0/7 (0) |
2/14 (14) |
4/22 (18) |
|
1/13 (8) |
|
| Lentigines >100 |
3/22 (14) |
0/7 (0) |
1/14 (7) |
1/22 (4) |
|
2/14 (14) |
|
| Papillomata |
0/20 (0) |
0/6 (0) |
0/10 (0) |
0/19 (0) |
|
0/13 (0) |
39% |
| Haemangioma |
5/20 (25) |
2/6 (33) |
1/10 (10) |
4/19 (21) |
24% |
3/13 (23) |
|
| Neurological |
|
|
|
|
|
|
|
| Motor delay |
21/21 (100) |
7/7 (100) |
13/14 (93) |
21/21 (100) |
|
14/14 (100) |
|
| Age of walk (median) |
2.5 |
2.7 |
2.0 |
2.1 |
|
3.0 |
|
| Speech delay |
20/21 (95) |
7/7 (100) |
11/13 (85) |
19/20 (95) |
46% |
14/14 (100) |
|
| First words (median) |
3.0 |
– |
2.3 |
3.0 |
|
2.9 |
|
| Mental retardation |
21/21 (100) |
6/7 (86) |
11/13 (85) |
21/21 (100) |
91% |
14/14 (100) |
|
| Autistic features |
3/15 (20) |
2/6 (33) |
5/8 (62) |
3/14 (21) |
|
5/11 (45) |
|
| Seizures |
3/18 (17) |
0/6 (0) |
4/13 (31) |
3/19 (16) |
15% |
4/12 (33) |
11% |
| Nystagmus |
4/18 (22) |
3/6 (50) |
4/7 (57) |
5/17 (29) |
30% |
4/11 (36) |
|
| Neurosensory |
|
|
|
|
|
|
|
| Strabismus |
9/20 (45) |
3/5 (60) |
6/12 (50) |
8/19 (42) |
33% |
8/12 (67) |
|
| Myopia |
5/13 (38) |
1/4 (25) |
3/9 (33) |
5/11 (45) |
|
3/10 (30) |
|
| Deafness |
3/12 (25) |
0/3 (0) |
2/12 (17) |
1/13 (8) |
|
3/8 (38) |
|
