Holoprosencephaly represents a broad spectrum of malformations resulting from a lack of separation of the structures of the forebrain. In Duane's retraction syndrome, there is absence of the sixth nerve nucleus with congenital retraction of the globe and narrowing of the lid fissure in adduction, frequent abduction deficiency, and variable limitation to adduction of the affected eye. Both holoprosencephaly and Duane's syndrome are reported in association with a constellation of somatic, ocular and central nervous system anomalies. The purpose of this report is to present a child with the uncommon and previously unreported concurrence of both of these syndromes, associated with growth defect and other congenital malformations, presumably because of a common disturbance of neuronal development. The similar association of other congenital anomalies in both syndromes suggests a common genetic mutation, or a common teratogenic stimulus at an early stage of embryogenesis, may be responsible for this concurrence.
|Translated title of the contribution||Duane's retraction syndrome, holoprosencephaly and multiple malformations: A possible new association|
|Number of pages||3|
|Journal||Impegno Ospedaliero, Sezione Scientifica|
|Publication status||Published - 2002|
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