MIDAS SYNDROME (MICROPHTHALMIA, DERMAL APLASIA, AND SCLEROCORNEA) - AN X-LINKED PHENOTYPE DISTINCT FROM GOLTZ-SYNDROME

Bilateral microphthalmia with blepharophimosis, linear lesions of derm al aplasia involving the face, and microcephaly were present in a newb orn girl who died at age 9 months from cardiomyopathy resulting in ven tricular fibrillation. Autopsy showed an atrial septum defect, persist ent gross trabeculation of the left ventricle, and an arteria lusoria. This case represents a further example of a new entity for which we p ropose 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 c an be assigned to Xp22.3. This new X-linked male-lethal trait should b e distinguished from focal dermal hypoplasia that will be found to map elsewhere on the X-chromosome. (C) 1993 Wiley-Liss, Inc.