Abstract
GAPO syndrome is an entity with multiple congenital anomalies syndrome involving connective tissue characterized by growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO) syndrome. To date, only approximately 45 cases of this extremely rare syndrome have been reported. We present thee case of a 9-year Indian male patient with GAPO syndrome in association with craniosynostosis along with degenerating optic nerve, short stature, partial anodontia, abnormally thick maxillary buccal and lingual frenum, born first to parents showing consanguineous marriage; however, the intelligence quotient of the child was good.
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