Skip to search formSkip to main contentSkip to account menu

Microphthalmos

Known as: Simple microphthalmos, Microphthalmia, Microphthalmos [Disease/Finding] 
A congenital abnormality characterized by the presence of an abnormally small eye globe.
National Institutes of Health

Related topics

Related topics

50 relations

Narrower (10)

ANOPHTHALMIA AND PULMONARY HYPOPLASIABehrens Baumann Dust syndromeCataract, congenital, with microcornea or slight microphthalmiaKaplowitz Bodurtha syndrome
Adams Oliver syndromeAicardi's syndromeBLEPHAROPHIMOSIS, PTOSIS, AND EPICANTHUS INVERSUS (disorder)Bilateral microphthalmos

Broader (1)

Eye Abnormalities

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2005
Review
2005
Congenital diaphragmatic hernia in WAGR syndrome
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR) syndrome is a contiguous gene deletion syndrome… 
Review
2003
Review
2003
Ocular and systemic findings associated with optic disc colobomas.
PURPOSE To determine the ocular and systemic anomalies associated with optic disc colobomas. PATIENTS AND METHODS The records… 
Review
2000
Review
2000
Waardenburg syndrome.
Highly Cited
1999
Highly Cited
1999
Expression of genes for microphthalmia isoforms, Pax3 and MSG1, in human melanomas.
Microphthalmia (MITF) gene product, a transcription factor of the basic-helix-loop-helix type, is thought to play a role in the… 
Highly Cited
1992
Highly Cited
1992
Combined Goltz and Aicardi syndromes in a terminal Xp deletion: are they a contiguous gene syndrome?
We report on 2 girls with a terminal deletion of the short arm of chromosome X. They had microphthalmia, cloudy corneae, mild… 
1990
1990
Clinical/epidemiological analysis of malformations.
To investigate the heterogeneity of congenital malformations, we analyzed the distribution of 14 selected anomalies among 11,421… 
1977
1977
Congenital Herpes Simplex Type II Infection with Extensive Hepatic Calcification, Bone Lesions and Cataracts: Complete Postmortem Examination
True congenital herpes simplex viral (hsv) infections have been reported infrequently and have been associated with various… 
Review
1964
Review
1964
OCULAR PATHOLOGY OF THE 13-15 TRISOMY SYNDROME.
The 13-15 trisomy syndrome (also called D-trisomy and Patau syndrome 1 ) comprises an entity in which an extra chromosome is… 
1963
1963
Colchicine Teratogenesis in Hamster Embryos.∗
  • V. Ferm
  • Proceedings of the Society for Experimental…
  • 1963
  • Corpus ID: 43818160
Summary Colchicine injected intravenously into pregnant hamsters on the 8th day of gestation at levels of 10 mg kg produces a… 
1950
1950
RETROLENTAL FIBROPLASIA: A Clinical Study of Two Hundred and Thirty-Eight Cases
THE TERM "retrolental fibroplasia" was devised in 1941 by Dr. Harry H. Messenger, of Boston, for use by Dr. Theodore L. Terry… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)