title: Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.
abstract: Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD).
authors.affiliation: Ophthalmology Department , Leiria Hospital Center, Leiria , Portugal and.
authors.forename: Sílvia
authors.initials: S
authors.lastname: Mendes
authors.forename: Diana
authors.initials: D
authors.lastname: Beselga
authors.forename: Sónia
authors.initials: S
authors.lastname: Campos
authors.forename: Arminda
authors.initials: A
authors.lastname: Neves
authors.forename: Joana
authors.initials: J
authors.lastname: Campos
authors.forename: Sílvia
authors.initials: S
authors.lastname: Carvalho
authors.forename: Eduardo
authors.initials: E
authors.lastname: Silva
authors.forename: João Paulo
authors.initials: JP
authors.lastname: Castro Sousa
mesh_terms: D001763:Blepharoptosis / Q000151:congenital* / Q000175:diagnosis; D002648:Child; D003391:Cranial Nerves / Q000002:abnormalities*; D005133:Eye Movements; D005260:Female; D006801:Humans; D015835:Ocular Motility Disorders / Q000175:diagnosis / Q000209:etiology*; D009801:Oculomotor Muscles / Q000294:innervation*
keywords: Brown syndrome; Duane syndrome; congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs); inferior oblique muscle; ocular movement restriction; ptosis