|
(C) Coloboma and/or micropthalmia
|
Coloboma
|
10 (28.6)
|
20 (9.3)
|
|
Micropthalmia
|
2 (5.7)
|
4 (1.9)
|
|
Visual impairment
|
3 (8.6)
|
3 (1.4)
|
|
(H) Heart defects
|
VSD
|
14 (40.0)
|
20 (9.3)
|
|
ASD
|
14 (40.0)
|
17 (7.9)
|
|
PDA
|
4 (11.4)
|
12 (5.6)
|
|
patent foramen ovale
|
2 (5.7)
|
5 (2.3)
|
|
Aortic arch anomaly
|
0 (0)
|
2 (0.9)
|
|
Tetralogy of the heart
|
1 (2.9)
|
2 (0.9)
|
|
Other heart anomalies
|
7 (20.0)
|
12 (5.6)
|
|
(A) Atresia of the choana
|
Choanal atresia
|
35 (100)
|
215 (100)
|
|
(R) Retarded growth and development
|
Retarded growth
|
4 (11.4)
|
6 (2.8)
|
|
Developmental delay
|
5 (14.3)
|
7 (3.3)
|
|
CNS anomalies
|
6 (17.1)
|
18 (8.4)
|
|
(G) Genital hypoplasia
|
Undescended testes
|
6 (17.1)
|
6 (2.8)
|
|
Micropenis
|
3 (8.6)
|
3 (1.4)
|
|
Labial adhesions
|
1 (2.9)
|
1 (0.5)
|
|
Undefined genital anomalies
|
1 (2.9)
|
1 (0.5)
|
|
(E) Ear anomalies and/or hearing loss
|
Ear anomalies
|
14 (40.0)
|
16 (7.4)
|
|
SNHL
|
13 (37.1)
|
19 (8.8)
|
|
Conductive hearing loss
|
1 (2.9)
|
1 (0.5)
|
|
Other dysmorphic features
|
Dysmorphic facial features
|
11 (31.4)
|
28 (13.0)
|
|
Strabismus/Proptosis
|
0 (0)
|
6 (2.8)
|
|
Micro/retrognathia
|
2 (5.7)
|
9 (4.2)
|
|
Digital anomalies
|
2 (5.7)
|
12 (5.6)
|
|
Upper limb defects
|
1 (2.9)
|
3 (1.4)
|
|
Foot anomalies
|
2 (5.7)
|
5 (2.3)
|
|
Undefined dysmorphic features
|
7 (20.0)
|
15 (7.0)
|
|
Palatal Anomalies
|
Cleft lip and/or palate
|
2 (5.7)
|
20 (9.3)
|
|
High-arched palate
|
1 (2.9)
|
2 (0.9)
|
|
Airway abnormalities
|
Tracheoesophageal fistula
|
3 (8.6)
|
5 (2.3)
|
|
Tracheomalacia
|
3 (8.6)
|
5 (2.3)
|
|
Tracheal stenosis
|
0 (0)
|
3 (1.4)
|
|
Laryngeal abnormalities
|
4 (11.4)
|
17 (7.9)
|
|
Obstructive sleep apnea
|
1 (2.9)
|
2 (0.9)
|
|
Other Anomalies/Conditions
|
Facial nerve palsy
|
3 (8.6)
|
4 (1.9)
|
|
Hypothalamo-hypophyseal
|
2 (5.7)
|
3 (1.4)
|
|
Urinary tract
|
9 (25.7)
|
19 (8.8)
|
|
Gastro-intestinal
|
7 (20.0)
|
14 (6.5)
|
|
Skeletal (excluding limb defects)
|
3 (8.6)
|
9 (4.2)
|
|
Pulmonary
|
2 (5.7)
|
3 (1.4)
|
