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.
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http://dx.doi.org/10.1177/01455613241307753 | DOI Listing |
Ear Nose Throat J
December 2024
Department of Otorhinolaryngology, Al Mouwasat University Hospital, Damascus University, Damascus, Syria.
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.
View Article and Find Full Text PDFSaudi Dent J
September 2024
Oro-dental Genetics Department, Egypt.
Objective: GAPO syndrome is usually diagnosed clinically owing to its characteristic features of growth retardation, alopecia, pseudoanodontia, and ophthalmic anomalies. Pseudoanodontia describes the failure of eruption of the two sets of teeth in these patients. Thus, the abnormal dental phenotype is the emergence of a set or part of a set of dentitions.
View Article and Find Full Text PDFJ Craniofac Surg
July 2024
Department of Otolaryngology, Faculty of Medicine, Hacettepe University, Ankara, Turkey.
Hamamy Syndrome is an autosomal recessive syndrome with craniofacial, neurological, and osteological implications. Patients most commonly present with repeated long fractures however, other affected systems with their respective clinical presentations warrant a thorough reporting and understanding of this genetic disorder. Herein, the authors, present a 21-year-old male patient diagnosed with Hamamy Syndrome with bilateral stenosis of the optic canals and associated bilateral vision loss.
View Article and Find Full Text PDFOphthalmic Genet
August 2024
VST Centre for Glaucoma Services, LV Prasad Eye Institute, Hyderabad, India.
Background: GAPO syndrome is a rare autosomal recessive disorder characterized by the acronym of growth retardation, alopecia, pseudo-anodontia and progressive optic atrophy. While the genetic alteration of the gene has been known for its cause, the full range of its clinical and genetic manifestations is not well explored due to the syndrome's extreme rarity.
Materials/methods: We report two children born to a non-consanguineous parent in India with classical features of GAPO syndrome.
Sci Rep
April 2024
Center for Biochemistry, Medical Faculty, University of Cologne, Joseph-Stelzmann-Str. 52, 50931, Cologne, Germany.
ANTXR1 is one of two cell surface receptors mediating the uptake of the anthrax toxin into cells. Despite substantial research on its role in anthrax poisoning and a proposed function as a collagen receptor, ANTXR1's physiological functions remain largely undefined. Pathogenic variants in ANTXR1 lead to the rare GAPO syndrome, named for its four primary features: Growth retardation, Alopecia, Pseudoanodontia, and Optic atrophy.
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