Dysplasia, septo-optic
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Septo-optic dysplasia is a heterogeneous combination of cerebral, endocrine and systemic malformations. De Morsier syndrome is only one form of it.
Clinical findings:
- dysmorphic features: large forehead, hypertelorism, small nose
- macro - or microcephaly; sometimes cleft lip palate or median facial cleft
- ocular: nystagmus, coloboma, microphthalmia, retinal abnormalities
- endocrine problems: panhypopituitarism or isolated deficiency in one or another hormone
- genital anomalies
- small hands and feet, sometimes contractures
- psychomotor retardation, sometimes epilepsy
- MRI: hypoplasia of the optic nerve, total or partial absence of the septum pellucidum and the corpus callosum, abnormalities of the white matter, ventriculomegaly, sometimes holoprosencephaly.
Anesthetic implications:
according to the associated anomalies ; check the endocrine status
Updated: July 2019