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Table 2 Comparison of the clinical features of our patients with those reported by Sebold et al., 2010

From: Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization

Patient

1

2

3

4

5

6

7

8

9

%

Sebold et al., 2010

Clinical findings

Sex

M

F

F

M

F

M

M

F

F

  

FD

 triangular face

+

+

+

+

+

+

+

+

+

100%

*

 horizontal palpebral fissure

+

+

+

+

+

+

+

+

89%

*

 Synophris

+

+

22%

*

 Strabismus

+

+

+

33%

45%

 epicanthus

+

+

22%

*

 low-set ears

+

+

+

+

+

+

+

+

+

100%

32%

 anteverted nares

+

+

+

+

+

55%

*

 Depressed nasal Bridge

+

+

+

+

+

+

+

+

+

100%

*

 Smooth philtrum

+

+

+

+

+

+

+

+

+

100%

87%

 small mouth

+

+

+

+

+

+

+

+

89%

17/31

 thin upper lip

+

+

+

+

+

+

+

+

+

100%

35%

Developmental delay/ID

+

+

+

+

+

+

+

+

+

100%

100%

Growth retardation

+

+

+

+

+

+

78%

30%

Microcephaly

+

+

+

+

+

+

+

+

89%

53%

Cardiac defect

+

+

+

NP

37%

24%

Abnormal muscle tone

+

+

22%

73%

Seizures

+

11%

21%

Stereotyping

+

+

22%

25%

Kidney defect

+

11%

6,45%

Single palmar crease

+

+

22%

*

Hypospadias

+

11%

4%

Ectopic testis

+

+

22%

*

Hearing loss

0%

12%

Feet anomalies

+

+

22%

23%

Corpus callosum hypoplasia

*

+

*

11%

25%

  1. +: present, −: not present, F female, M Male, *: data not collected or not mentioned, NP Not performed, FD Facial Dysmorphia, ID Intellectual disability