Jornal de Síndromes Genéticas e Terapia Gênica
Acesso livre

Abstrato

Excyclotropia Leading to Meridoneal

Madhumita Srivastava

Apert’s syndrome (AS) is a very rare condition (15.5 per million
births) characterized by craniosynostosis (premature fusion of
cranial sutures), prominent forehead, ocular hypertelorism,
proptosis, short and broad nose, pseudoprognathism, dental
crowding and ectopia, maxillary hypoplasia, low hairline,
webbed neck, pectus excavatum, and severe, bilateral syndactyly
of hands and feet [1]. In 1842 Baumgartner and 1894 Wheaton
reported this condition for first time, but it was Eugene Apert a
French paediatrician who in for the first time described nine
people with a similar disorder. Hence the name is attributed to
him [2,3]. Ocular findings are proptosis (very frequent);
strabismus (frequent).other eye features include corneal erosion,
visual impairment and optic atrophy [4]. In our present three
cases we found V pattern of eye globe with divergent up gaze and
isotropic down gaze.