title: Microphthalmia with linear skin defects syndrome.
abstract: Microphthalmia with linear skin defects (MLS) or microcornea, dermal aplasia and sclerocornea (MIDAS) syndrome is a rare X-linked-dominant disorder. We present a patient with agenesis of corpus callosum, ocular abnormalities, and multiple skin defects. The cytogenetic studies of the MLS critical region (Xp22.2) were normal, but a skewed X-chromosome inactivation pattern (85:15) was observed.
authors.affiliation: Department of Dermatology, Valencia General University Hospital and Medical School, Valencia, SpainGenetics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain.
authors.forename: Ana
authors.initials: A
authors.lastname: García-Rabasco
authors.forename: Blanca
authors.initials: B
authors.lastname: De-Unamuno
authors.forename: Francisco
authors.initials: F
authors.lastname: Martínez
authors.forename: Isabel
authors.initials: I
authors.lastname: Febrer-Bosch
authors.forename: Víctor
authors.initials: V
authors.lastname: Alegre-de-Miquel
mesh_terms: D002648:Child; D041321:Chromosomes, Human, X; D020405:Dermis / Q000473:pathology*; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology*; D006801:Humans; D008850:Microphthalmos / Q000235:genetics* / Q000473:pathology*; D012868:Skin Abnormalities / Q000235:genetics* / Q000473:pathology*; D049951:X Chromosome Inactivation