MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): an X-linked phenotype distinct from Goltz syndrome.

Abstract

Bilateral microphthalmia with blepharophimosis, linear lesions of dermal aplasia involving the face, and microcephaly were present in a newborn girl who died at age 9 months from cardiomyopathy resulting in ventricular fibrillation. Autopsy showed an atrial septum defect, persistent gross trabeculation of the left ventricle, and an arteria lusoria. This case represents a further example of a new entity for which we propose the term MIDAS syndrome. The acronym stands for microphthalmia, dermal aplasia, and sclerocornea. Our patient is the second with this syndrome to have a major congenital heart defect. Cytogenetic studies reported in previous cases indicate that the underlying gene defect can be assigned to Xp22.3. This new X-linked male-lethal trait should be distinguished from focal dermal hypoplasia that will be found to map elsewhere on the X-chromosome.

• Authors: R Happle, O Daniëls, R J Koopman
• Journal: American journal of medical genetics (Am J Med Genet) Vol. 47 Issue 5 Pg. 710-3 (Oct 01 1993) ISSN: 0148-7299 [Print] United States
• PMID: 8267001 (Publication Type: Case Reports, Comparative Study, Journal Article, Review)

Topics

• Abnormalities, Multiple (genetics)
• Corneal Opacity (genetics)
• Female
• Focal Dermal Hypoplasia (diagnosis, genetics)
• Genetic Linkage
• Humans
• Infant
• Microphthalmos (genetics)
• Phenotype
• Skin Abnormalities
• Syndrome
• X Chromosome