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MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea): An X‐linked phenotype distinct from Goltz syndrome

1993; Wiley; Volume: 47; Issue: 5 Linguagem: Inglês

10.1002/ajmg.1320470525

1096-8628

Rudolf Happle, O. Daniëls, R. J. J. Koopman,

melanin and skin pigmentation

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 malelethal trait should be distinguished from focal dermal hypoplasia that will be found to map elsewhere on the X‐chromosome. © 1993 Wiley‐Liss, Inc.