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Xp22.3 Microdeletion in a 19‐Year‐Old Girl with Clinical Features of MLS Syndrome
Author(s) -
Enright F.,
Campbell P.,
Stallings R. L.,
Hall K.,
Green A. J.,
Sweeney E.,
Barnes L.,
Watson R.
Publication year - 2003
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 - 10.1046/j.1525-1470.2003.20213.x
Subject(s) - medicine , microdeletion syndrome , girl , microphthalmia , dermatology , genetics , pediatrics , gene , biology , phenotype
We describe a 19‐year‐old girl who has clinical features of microphthalmia with linear skin defects (MLS) syndrome caused by a microdeletion of Xp22.3. In addition to the classical ocular abnormalities and linear skin defects she has other features not previously described. She was previously reported in this journal in 1990 as poikiloderma congenitale, but her true diagnosis of an Xp22.3 microdeletion was clarified when fluorescent in situ hybridization (FISH) analysis indicated that one of her X chromosomes had a microdeletion including the KAL gene. We describe this patient with an Xp22.3 microdeletion to heighten awareness among dermatologists of this syndrome and to underscore the difficulties in diagnosing MLS syndrome.