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Table 1 A table for the seven siblings with their ages, gender, physical examination, investigations, and rehabilitation details

From: A rare case of seven siblings with Waardenburg syndrome: a case report

Child the 7 siblings

Gender

Age

Symptoms and physical examination

Investigations

Rehabilitation

1

Male

20-year-old

 

Congenital sensory neural hearing loss

+

Prominent broad nasal root

Ear examination (normal findings)

+

Otoacoustic emissions (OAEs)

+

ABR at early age

+

Dermatology consultation

+

Laboratory tests (blood and urine analysis)

+

Chest X-ray

+

Opthalmology consultation (an examination by a slit lamp, color vision, ocular motility, and fundoscopy)

Ability to read lips

+

Speech therapist is consulted again

2

Male

17-year-old

3

Male

15-year-old

Full heterochromia

4

Female

14-year-old

5

Female

13-year-old

Pale blue eyes

6

Male

11-year-old

Segmental pigmentation

7 (Our patient)

Male

8-year-old

Congenital sensory neural hearing loss

+

Prominent broad nasal root

+

Segmental pigmentation in the iris

Ear examination (normal findings)

+

Otoacoustic emissions (OAEs)

+

Pure-tone audiogram (PTA)

+

Dermatology consultation

+

Laboratory tests (blood and urine analysis)

+

Chest X-ray

+

Opthalmology consultation (an examination by a slit lamp, color vision, ocular motility, and fundoscopy)

Speech therapist is consulted

and

communication skills sessions