title: 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.affiliation: Department of Dermatology, University of Marburg, Germany.
authors.forename: R
authors.initials: R
authors.lastname: Happle
authors.forename: O
authors.initials: O
authors.lastname: Daniëls
authors.forename: R J
authors.initials: RJ
authors.lastname: Koopman
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D003318:Corneal Opacity / Q000235:genetics*; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000175:diagnosis / Q000235:genetics; D008040:Genetic Linkage; D006801:Humans; D007223:Infant; D008850:Microphthalmos / Q000235:genetics*; D010641:Phenotype; D012868:Skin Abnormalities; D013577:Syndrome; D014960:X Chromosome