MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): An X-linked phenotype distinct from Goltz syndrome
✍ Scribed by Happle, R. ;Daniëls, O. ;Koopman, R. J. J.
- Publisher
- John Wiley and Sons
- Year
- 1993
- Tongue
- English
- Weight
- 400 KB
- Volume
- 47
- Category
- Article
- ISSN
- 0148-7299
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✦ Synopsis
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 a n atrial septum defect, persistent gross trabeculation of the left ventricle, and a n 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 malelethal trait should be distinguished from focal dermal hypoplasia that will be found to map elsewhere on the X-chromosome.