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Phenotypic Variation in Ophthalmic Manifestations of MIDAS Syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea)
Arch Ophthalmol. 2004;122:1070-1074.
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The term MIDAS syndrome was coined by Happle et al1 in 1993 to describe the predominant features of a genetic disorder with microphthalmia, dermal aplasia, and sclerocornea. This syndrome has also been called the "MLS syndrome," which stands for "microphthalmia with linear skin defects." The dermal aplasia in MIDAS syndrome consists of linear erythematous skin defects that typically involve the face, scalp, neck, and upper part of the thorax. In addition to the ocular and skin findings, there are multiple nonocular abnormalities commonly reported to be associated with MIDAS syndrome. Some of these include congenital heart defects, short stature, hypospadias, developmental delay, absence of the corpus callosum, nail dystrophy, and hydrocephalus.
The underlying defect in MIDAS syndrome is due to a deletion at Xp22.3. The disease is believed to be transmitted as an X-linked dominant trait that is lethal in the male hemizygous state. This theory . . . [Full Text of this Article] Report of Cases
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Catherine J. Cape, MD;
Gerald W. Zaidman, MD;
Allen D. Beck, MD;
Adam H. Kaufman, MD
Correspondence: Dr Zaidman, Department of Ophthalmology, Westchester Medical Center, Macy Pavilion, Room 1100, Valhalla, NY 10595 (pedkera@aol.com).
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