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Optic nerve hypoplasia associated with absent septum pellucidum and hypopituitarism.

作者信息

Krause-Brucker W, Gardner D W

出版信息

Am J Ophthalmol. 1980 Jan;89(1):113-20. doi: 10.1016/0002-9394(80)90237-8.

DOI:10.1016/0002-9394(80)90237-8
PMID:7356776
Abstract

Five children had bilateral optic nerve hypoplasia, absent septum pellucidum, and hypopituitarism. Absence of the septum pellucidum was shown by computed axial tomography. All of the children were first-born. One of the children was definitely not mentally retarded and one at age 7 months was developing normally. All of the children had severe visual impairment and nystagmus. Pupillary responses varied. Ocular deviations included one with exotropia and three with esotropia. The extent of pituitary hormone deficiency varied. One child was symptomatic from birth, having severe hypoglycemia and seizures. Two children had prolonged neonatal jaundice. One unusual case had growth hormone deficiency with a normal growth curve. Another child with diabetes insipidus had dehydration and polyuria without polydipsia.

摘要

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Arch Dis Child. 1994 Jan;70(1):51-3. doi: 10.1136/adc.70.1.51.
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Agenesis of the vermis with fusion of the cerebellar hemispheres, septo-optic dysplasia and associated anomalies. Report of a case.小脑蚓部发育不全伴小脑半球融合、视隔发育不良及相关畸形。病例报告。
Acta Neuropathol. 1982;56(3):161-6. doi: 10.1007/BF00690631.
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Optic nerve hypoplasia: septo-optic-pituitary dysplasia syndrome.
视神经发育不全:隔-视-垂体发育异常综合征。
Trans Am Ophthalmol Soc. 1981;79:425-57.
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Computed tomographic findings in septo-optic dysplasia: discordance between clinical and radiological findings.
Neuroradiology. 1984;26(4):279-83. doi: 10.1007/BF00339771.
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Ultrasound evaluation of septo-optic dysplasia in the new born. Report of a case.
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Optic nerve hypoplasia in infancy.婴儿期视神经发育不全
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Optic nerve hypoplasia associated with pupillary light-near dissociation, spastic paraparesis and other non-ocular anomalies.
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