Craniofacial dysmorphism and hearing impairment: it's not just about conductive hearing loss.

Joana Raquel Costa, Sara Ferraz, Teresa Soares, Miguel Bebiano Coutinho, Cecília Almeida e Sousa



The morbidities associated with craniofacial anomalies are significant. Although conductive hearing loss is a common finding and clinicians are globally sensitized and attentive, sensorineural hearing loss is underappreciated in these particular cases.

We investigated the prevalence of hearing loss among children with craniofacial dysmorphism, with special emphasis on sensorineural hearing loss.


This retrospective study included 12681 newborns in a tertiary hospital center, between 2015-2018. The following information was collected: gender, gestational age, risk factors for deafness/malformations, presence of craniofacial anomalies/syndromes, results of hearing screening, others complementary audiological exams and genetic research. 

Statistical treatment was performed using IBM SPSS 25.0. Continuous variables were presented as mean ± standard deviation, while categorical data were represented as numbers and percentages.


Among the 12681 newborns undergoing hearing screening, 60 had confirmed hearing loss, and of those 38.3% had craniofacial dysmorphism. The most frequent malformation was isolated cleft palate (43.5%).

In 73.9% of newborns with craniofacial dysmorphism, conductive hearing loss were reported, the majority of mild-moderate degree. In relation to sensorineural hearing loss, it was diagnosed in 26,1% of newborns with craniofacial dysmorphism, all of them from severe-profound degree.


Neonatal hearing screening in children with craniofacial dysmorphism is challenging. Not all hearing loss should be attributed to conductive hearing loss, being sensorineural hearing loss present in 26.1% of the cases. There are few studies in the literature that emphasize the prevalence and importance of early diagnosis of sensorineural deafness in the group of children with craniofacial dysmorphism.

Palabras clave

Craniofacial dysmorphism, congenital malformations, deafness, sensorineural hearing loss.

Texto completo:



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