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Microphthalmia with Linear Skin Defects Syndrome
Author(s) -
GarcíaRabasco Ana,
DeUnamuno Blanca,
Martínez Francisco,
FebrerBosch Isabel,
AlegredeMiquel Víctor
Publication year - 2012
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2012.01735.x
Subject(s) - microphthalmia , agenesis of the corpus callosum , medicine , aplasia , agenesis , microphthalmos , dermatology , anophthalmia , anatomy , corpus callosum , biology , genetics , gene
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.