MIDAS (microphthalmia, dermal aplasia, sclerocornea) syndrome with central nervous system abnormalities.

摘要

MIDAS syndrome is an acronym for microphthalmia, dermal aplasia, and sclerocornea. It is characterized by microphthalmia and linear skin defects usually located on the face and neck characterized by areas of aplastic skin which heal to form hyperpigmented areas. Additional features include sclerocornea, corneal opacities, cardiac anomalies, nervous system anomalies such as agenesis of corpus callosum, ventriculomegaly, microcephaly, mental retardation and infantile seizures (Jones, 2006). MIDAS syndrome occurs mainly in females, it is likely to be lethal in hemizygous males. The majority of patients with MIDAS syndrome are observed to have deletions or unbalanced translocations involving the distal short arm of the X chromosome (Xp22.3) (Morleo et al., 2005). We report here a girl, who shows stigmata of MIDAS syndrome with central nervous system involvement.