Children with septo-optic dysplasia -: How to improve and sharpen the diagnosis

被引:31
作者
Hellström, A
Aronsson, M
Axelson, C
Kyllerman, M
Kopp, S
Steffenburg, S
Strömland, K
Westphal, O
Wiklund, LM
Wikland, KA [1 ]
机构
[1] Queen Silvia Childrens Hosp, Goteborg Paediat Growth Res Ctr, Dept Paediat, S-41685 Gothenburg, Sweden
[2] Queen Silvia Childrens Hosp, Dept Clin Neurosci, Sect Ophthalmol, S-41685 Gothenburg, Sweden
[3] Queen Silvia Childrens Hosp, Dept Paediat, S-41685 Gothenburg, Sweden
[4] Queen Silvia Childrens Hosp, Dept Neuropsychiat, S-41685 Gothenburg, Sweden
[5] Queen Silvia Childrens Hosp, Dept Radiol, S-41685 Gothenburg, Sweden
关键词
septo-optic dysplasia; diagnosis; children; etiology;
D O I
10.1159/000053200
中图分类号
R5 [内科学];
学科分类号
1002 [临床医学]; 100201 [内科学];
摘要
The data in this article are based on investigations performed in 25 children with suspected septo-optic dysplasia (SOD), There are many signs and methods that help in the diagnosis of SOD, In particular, the ocular fundus, abnormalities of the hypothalamo-pituitary axis and other midline brain structures should be described. In order to achieve a more holistic and functional diagnosis, the degree of neurological, neuropsychiatric and psychological involvement should also be stated. It has been suggested that SOD is associated with autosomal recessive inheritance, and it can be speculated that it is the result of genetic and environmental influences early in gestation. An early diagnosis can favourably influence the outcome of the affected child. Copyright (C) 2000 S. Karger AG, Basel.
引用
收藏
页码:19 / 25
页数:7
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