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New observations on midline defects: Coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders

  • Medical Genetics
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Abstract

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”.

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Abbreviations

BA:

bone age

CCT:

cranial computer tomogram

EAH:

equivalent age for height

GH:

growth hormone

GHD:

growth hormone deficiency

GHRH:

growth hormone releasing hormone

IGF-I:

insulin-like growth factor I

SOD:

septo-optic dysplasia

T3:

triiodothyroxine

T4:

thyroxine

TRH:

thyroid stimulating hormone releasing hormone

TSH:

thyroid stimulating hormone

WA:

weight age

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Dedicated to Professor Dr. D. Schönberg on the occasion of his 60th birthday

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Bierich, J.R., Christie, M., Heinrich, J.J. et al. New observations on midline defects: Coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders. Eur J Pediatr 150, 246–249 (1991). https://doi.org/10.1007/BF01955522

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  • DOI: https://doi.org/10.1007/BF01955522

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