Novel Otolaryngological and Radiological Manifestations in GAPO Syndrome

Abstract

GAPO syndrome is an exceptionally-rare autosomal recessive disorder characterized by growth retardation, alopecia, pseudoanodontia, and optic abnormalities, with fewer than 60 cases reported globally. We present the first documented case in Syria, highlighting novel otolaryngological and radiological findings that expand the clinical spectrum of this syndrome. A 27-year-old male presented with chronic right-sided otalgia, unilateral conductive hearing loss, and persistent sinonasal symptoms. Examination revealed hallmark features of GAPO syndrome, including craniofacial anomalies, external auditory canal stenosis, and pseudoanodontia. Computed tomography demonstrated total aplasia of the paranasal sinuses and mastoid air cells—findings not previously reported in GAPO syndrome. Audiological evaluation revealed moderate conductive hearing loss attributed to external auditory canal stenosis and eustachian tube dysfunction, contrasting with the predominantly-sensorineural hearing loss reported in earlier cases. Additionally, unique ophthalmic findings, including peripheral congenital cataracts and a myelinated retinal nerve fiber layer, were observed. This case underscores the importance of comprehensive evaluations, including advanced imaging and audiological assessments, in identifying subtle or atypical manifestations of GAPO syndrome. It also highlights challenges in airway management due to craniofacial anomalies. The findings emphasize the necessity for a multidisciplinary approach to optimize care and improve outcomes in patients with GAPO. Further research is needed to clarify genotype-phenotype correlations and refine diagnostic criteria.