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2018

ANUÁRIO DO HOSPITAL DONA ESTEFÂNIA
REPOSITÓRIO MÉDICO CIENTÍFICO

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SYNDROMIC HEARING LOSS WITH EAR MALFORMATION: A PICTORIAL REVIEW

Joana Barreira1, Carla Conceição2

1- Serviço de Neurorradiologia, Hospital Egas Moniz, Centro Hospitalar Lisboa Ocidental
2- Serviço de Neurorradiologia, Hospital Dona Estefânia, Centro Hospitalar Lisboa Central

- Congresso Nacional SPNR, 1 a 4 de junho 2017, Estarreja

Introduction: Syndromic hearing loss (SHL) accounts for about 30% of cases of congenital deafness. When associated with ear malformation, It may have an autosomal dominant (AD) or recessive (AR) hereditary cause or be X-linked. More than 400 genes are known to be involved, each with phenotypic characteristics and variable penetrance, having as common features the presence of deafness associated with other physical or systemic manifestations. We intend to review the images of all patients studied by hearing loss with a final SHL diagnosis.
Methods: All CT and MRI images recorded on PACS with the clinical information of hearing loss between January 2014 and March 2017 were retrieved. Those with genetic diagnosis of SHL were included. Clinical data was reviewed.
Results: 11 genetic proved SHL were included: 9 AD, 1 AR and 1 X-linked. The most representative cases were selected. A theoretical-imagiological review is presented.
Conclusion: Congenital deafness has important consequences in both language acquisition and child learning. When syndromic, prompt diagnosis is important in order to correct the associated defects. Imaging studies can help narrow the diagnosis and may even raise suspicion, so in neurorradiology it is important to be familiar with some typical craniofacial imaging features of these syndromes.

Palavras Chave:  congenital deafness; ear malformation; imaging; syndromic hearing loss