Costa Joana Raquel, Santos Mariline, Bebiano Coutinho Miguel, Soares Teresa, Almeida E Sousa Cecília
Institucion: Centro Hospitalar Universitário do Porto, Porto, Portugal.
Int J Pediatr Otorhinolaryngol. 2019 Aug;123:202-205. doi: 10.1016/j.ijporl.2019.05.022. Epub 2019 May 21.
Craniodiaphysial dysplasia is an extremely rare genetic disorder characterized by a severe form of bone dysplasia and a distinctive facial dysmorphisms, as a result of a massive generalized hyperostosis and sclerosis, primarily involving the facial bones and the skull. We present a 10-years-old girl referred to an otolaryngology consultation with complaints of progressive hearing loss. The clinical aspects, pathogenesis and management of this disease are also review in this paper. Furthermore, we describe the first case of craniodiaphysial dysplasia rehabilitated with Bone-Anchored Hearing Aid, despite the concerns inherent to the involvement of the skull bone that characterizes the disease.