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 | Â | 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 |