title: New observations on midline defects: coincidence of anophthalmos, microphthalmos and cryptophthalmos with hypothalamic disorders.
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".
authors.affiliation: Universitätskinderklinik Tübingen, Federal Republic of Germany.
authors.forename: J R
authors.initials: JR
authors.lastname: Bierich
authors.forename: M
authors.initials: M
authors.lastname: Christie
authors.forename: J J
authors.initials: JJ
authors.lastname: Heinrich
authors.forename: A S
authors.initials: AS
authors.lastname: Martinez
mesh_terms: D000015:Abnormalities, Multiple; D000853:Anophthalmos / Q000150:complications*; D001006:Anus, Imperforate / Q000150:complications; D003103:Coloboma / Q000150:complications; D003409:Congenital Hypothyroidism; D006130:Growth Disorders / Q000150:complications / Q000151:congenital*; D006801:Humans; D007006:Hypogonadism / Q000150:complications / Q000151:congenital; D007027:Hypothalamic Diseases / Q000150:complications / Q000151:congenital*; D007037:Hypothyroidism / Q000150:complications; D007231:Infant, Newborn; D007498:Iris / Q000002:abnormalities; D008297:Male; D008850:Microphthalmos / Q000150:complications*