DOOR syndrome: a case report and its embryological basis

Publication date: Available online 14 November 2018

Source: International Journal of Pediatric Otorhinolaryngology

Author(s): Mariline Santos, Ângela Reis - Rego, Miguel Coutinho, Cecília Almeida e Sousa

Abstract

DOOR syndrome is an extremely rare genetic disorder. "DOOR" is an acronym to describe the combination of: deafness, onychodystrophy, osteodystrophy and mental retardation. We present a patient, with all of the above-mentioned main symptoms, that was rehabilitated with convencional hearing aids. The presented case suggested that every case of deafness and abnormal nails and phalanges in the hands and feet should have a clinical diagnosis of possible DOOR syndrome. Based on embryological process, congenital abnormal nails or phalanges highlights the importance for detailed hearing screening.

https://ift.tt/2zaTHCm