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Table 1 Clinical features of individuals with nonphotosensitive trichothiodystrophy

From: Mitral regurgitation as a phenotypic manifestation of nonphotosensitive trichothiodystrophy due to a splice variant in MPLKIP

Individuals

ED168

ED210

ED241

IV-1

IV-2

IV-4

IV-6

IV-3

IV-4

IV-1

IV-2

IV-5

Gender

Female

Male

Male

Male

Female

Male

Male

Male

Female

Age (years)

38

35

27

23

17

8

25

15

12

Height

5′4″

5′8″

5′6″

5′6″

4′9″

3′4″a

5′7″

5′1″

4′5″a

Gestation

Normal

Normal

Normal

Normal

Normal

Normal

Normal

Normal

Normal

Hair features

 -Brittle hair

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

 -Dystrophic shaft

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

 -Hair growth

Slow

Slow

Slow

Slow

Slow

Slow

Slow

Slow

Slow

 -Diffuse hair fall

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Eyebrows

Sparse

Sparse

Sparse

Sparse

Sparse

Sparse

Sparse

Absent

Absent

Eyelashes

Sparse

Sparse

Sparse

Sparse

Sparse

Sparse

Sparse

Absent

Absent

Beard

-

Less dense

Less dense

Less dense

-

-

Less dense

-

-

Aged appearance

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Intellectual disability

Mild

Mild

Mild

Mild

Mild

Mild

Mild

Mild

Mild

Speech

Slurred

Slurred

Slurred

Slurred

Slurred

Slurred

Slurred

Slurred

Slurred

Epilepsy

No

Yes

No

No

No

No

No

No

No

Ocular features

 -Blurred vision

Yes

Yes

No

No

Yes

Yes

Yes

Yes

Yes

 -Corneal bulging

Yes

Yes

No

No

No

No

No

No

No

 -Corneal opacity

No

Yes

No

No

No

No

No

No

No

Recurrent rhinosinusitis

Severe

Severe

Mild

Mild

Mild

Mild

Mild

Mild

Mild

High-arched Palate

Yes

?

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Teeth

Normal

Normal

Irregular, Hypodontia

Normal

Normal

Irregular, Hypodontia

Irregular

Normal

Normal

Skeletal structure

Normal

Normal

Normal

Normal

Normal

Normal

Normal

Normal

Normal

Ichthyosis

No

No

No

No

No

No

No

No

No

UV sensitivity

No

No

No

No

No

No

No

No

No

Nails

Normal

Grooved

Grooved

Normal

Thick

Normal

Dystrophic

Dystrophic

Dystrophic

Mitral regurgitation

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

Yes

  1. aHeight for these two children fall below 1–2 standard deviations from the mean for Pakistani children of similar age