Literature DB >> 12829336

[Cutaneous aplasia, non compaction of the left ventricle and severe cardiac arrhythmia: a new case of MLS syndrome (microphtalmia with linear skin defects)].

L Kherbaoui-Redouani1, C Eschard, N Bednarek, P Morville, N Bednare.   

Abstract

A female neonate presented with cutaneous aplasia located to the face and the neck associated with a non compaction of the left ventricle leading to the diagnosis of MLS syndrome (microphtalmia with linear skin defects). The follow-up was complicated by life-threatening cardiac arrhythmia underlying prevention by an early diagnosis and adequate care. MLS syndrome and non compaction of myocardium are both located on X chromosome.

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Year:  2003        PMID: 12829336     DOI: 10.1016/s0929-693x(03)00014-9

Source DB:  PubMed          Journal:  Arch Pediatr        ISSN: 0929-693X            Impact factor:   1.180


  5 in total

Review 1.  Left ventricular noncompaction cardiomyopathy: cardiac, neuromuscular, and genetic factors.

Authors:  Josef Finsterer; Claudia Stöllberger; Jeffrey A Towbin
Journal:  Nat Rev Cardiol       Date:  2017-01-12       Impact factor: 32.419

Review 2.  Cardiogenetics, neurogenetics, and pathogenetics of left ventricular hypertrabeculation/noncompaction.

Authors:  Josef Finsterer
Journal:  Pediatr Cardiol       Date:  2009-01-29       Impact factor: 1.655

3.  Goltz-Gorlin (focal dermal hypoplasia) and the microphthalmia with linear skin defects (MLS) syndrome: no evidence of genetic overlap.

Authors:  May-Britt Harmsen; Silvia Azzarello-Burri; M Mar García González; Gabriele Gillessen-Kaesbach; Peter Meinecke; Dietmar Müller; Anita Rauch; Eva Rossier; Eva Seemanova; Christiane Spaich; Bernhard Steiner; Dagmar Wieczorek; Martin Zenker; Kerstin Kutsche
Journal:  Eur J Hum Genet       Date:  2009-03-11       Impact factor: 4.246

4.  Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome.

Authors:  Isabella Wimplinger; Manuela Morleo; Georg Rosenberger; Daniela Iaconis; Ulrike Orth; Peter Meinecke; Israela Lerer; Andrea Ballabio; Andreas Gal; Brunella Franco; Kerstin Kutsche
Journal:  Am J Hum Genet       Date:  2006-09-06       Impact factor: 11.025

5.  Familial cases of a submicroscopic Xp22.2 deletion: genotype-phenotype correlation in microphthalmia with linear skin defects syndrome.

Authors:  Sarah Vergult; Bart Leroy; Ilse Claerhout; Björn Menten
Journal:  Mol Vis       Date:  2013-02-06       Impact factor: 2.367

  5 in total

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