Total number of patients |
1 |
1 |
20(100) |
Craniofacial dysmorphism |
○ |
○ |
20(100) |
Microcephaly |
○ |
N/A |
11(79) |
Brachycephaly |
× |
N/A |
1(25) |
Craniosynostosis |
× |
○ |
1(25) |
Widow’s peak |
× |
N/A |
1(25) |
Tall forehead |
× |
○ |
7(88) |
Bitemporal narrowing |
× |
N/A |
3(75) |
Ear anomalies |
○ |
○ |
17(85) |
Thick eyebrows |
○ |
N/A |
1(25) |
Deep set eyes |
× |
N/A |
2(50) |
Strabismus |
× |
○ |
13(81) |
Broad/prominent nose |
× |
N/A |
18(90) |
Choanal atresia |
× |
N/A |
1(100) |
Hypertelorism |
× |
N/A |
7(50) |
Long philtrum |
× |
○ |
10(56) |
Thin vermilion of the lips |
× |
○ |
10(59) |
Downturned corners of the mouth |
× |
N/A |
1(20) |
Bifid uvula |
× |
N/A |
1(25) |
Posterior cleft palate |
× |
N/A |
3(25) |
High arched palate |
○ |
○ |
2(40) |
Broad chin |
× |
N/A |
5(71) |
Micrognathia |
× |
N/A |
4(57) |
Neurologic abnormalities |
△ |
○ |
19(95) |
Developmental delay |
△ |
○ |
19(95) |
Intellectual disability |
△ |
○ |
16(84) |
Behavioral problems |
△ |
○ |
7(70) |
Seizure |
△ |
N/A |
1(100) |
Hypotonia |
○ |
N/A |
8(89) |
Limb anomalies |
△ |
N/A |
11(69) |
Clinodactyly |
× |
N/A |
9(56) |
Tapering of the fingers |
× |
N/A |
2(22) |
Short fifth metacarpal bones |
△ |
N/A |
2(10) |
Brachydactyly |
× |
N/A |
1(25) |
Planovalgus foot |
△ |
N/A |
2(25) |
Overlapping toes |
○ |
○ |
1(25) |
Hypoplastic toenails |
△ |
N/A |
1(25) |
Congenital heart disease |
○ |
○ |
7(58) |
Patent ductus arteriosus |
× |
N/A |
5(71) |
Ventricular septal defect |
○ |
N/A |
3(60) |
Atrial septal defect |
× |
N/A |
1(100) |
Ventricular asymmetry |
× |
N/A |
1(25) |
Urinary tract/renal anomalies |
× |
○ |
5(42) |
Hydronephrosis |
× |
○ |
3(33) |
Dilated right ureter |
× |
N/A |
1(20) |
Right kidney |
× |
N/A |
1(20) |
Small kidneys |
× |
N/A |
1(33) |
Vesicoureteral reflux |
× |
N/A |
1(33) |
Genital anomalies |
○ |
N/A |
7(50) |
Cryptorchidism |
○ |
N/A |
3(43) |
Right undescended testicle |
× |
N/A |
1(25) |
Small labia minora and majora |
N/A |
N/A |
1(33) |
Small labia majora |
N/A |
N/A |
1(33) |
CNS malformations |
△ |
N/A |
4(33) |
Global cerebellar hypoplasia |
△ |
N/A |
1(25) |
Pineal cyst |
△ |
N/A |
1(20) |
Enlargement of the cisterna magna |
× |
N/A |
1(33) |
Others |
○ |
N/A |
0(0) |
low birth weight |
○ |
○ |
0(0) |
Immunodeficiency |
× |
○ |
0(0) |
Hearing loss |
△ |
N/A |
4(33) |
Duodenal atresia |
× |
N/A |
1(100) |