NEW OBSERVATIONS ON MIDLINE DEFECTS - COINCIDENCE OF ANOPHTHALMOS, MICROPHTHALMOS AND CRYPTOPHTHALMOS WITH HYPOTHALAMIC DISORDERS

被引:23
作者
BIERICH, JR
CHRISTIE, M
HEINRICH, JJ
MARTINEZ, AS
机构
[1] UNIV VIRGINIA,CHILDRENS MED CTR,DIV ENDOCRINOL & DIABET,CHARLOTTESVILLE,VA 22903
[2] HOSP NINOS DR RICARDO GUTIERREZ,BUENOS AIRES,ARGENTINA
关键词
MIDLINE DEFECTS; ANOPHTHALMOS; MICROPHTHALMOS; CRYPTOPHTALMOS; HYPOTHALAMIC DEFECTS;
D O I
10.1007/BF01955522
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
Four children with severe congenital eye anomalies are described of which three had related symptoms. Two had bilateral anophthalmia, the optic nerves not detectable by computed cranial tomography and magnetic resonance imaging, and the third child had bilateral microphthalmia and coloboma iridis. The fourth patient had bilateral cryptophthalmia as part of Fraser syndrome. All four patients were of small stature. In three of them growth hormone deficiency was demonstrated which was of hypothalamic origin as shown by growth hormone releasing hormone tests. In the fourth child hypogonadotropic hypogonadism and tertiary thyroid deficiency were diagnosed which responded well to thyroxine treatment. Pathogenetically the described disorders are due to congenital defects of midline structures as a common "developmental field".
引用
收藏
页码:246 / 249
页数:4
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