Microphthalmia with linear skin defects: a case report and review
- PMID: 18950397
- DOI: 10.1111/j.1525-1470.2008.00724.x
Microphthalmia with linear skin defects: a case report and review
Abstract
Microphthalmia with linear skin defects syndrome is an X-linked dominant disorder characterized by microphthalmia and other ocular anomalies as well as linear, jagged skin defects typically involving the scalp, face, neck, and upper trunk. Other associated characteristics include short stature, developmental delay, congenital heart defects, diaphragmatic hernia, agenesis of the corpus callosum, anencephaly, hydrocephalus, and seizures. Microphthalmia with linear skin defects syndrome is now known to be associated with a deletion of the X chromosome at Xp22. This is an area that has been found to include the HCCS gene, which encodes a holocytochrome c-type synthase believed to be critical in the regulation of apoptosis. We present a patient with classic clinical and genetic findings of MLS syndrome and discuss the primary characteristics and management of this disorder.
Similar articles
-
Mother and daughter with a terminal Xp deletion: implication of chromosomal mosaicism and X-inactivation in the high clinical variability of the microphthalmia with linear skin defects (MLS) syndrome.Eur J Med Genet. 2007 Nov-Dec;50(6):421-31. doi: 10.1016/j.ejmg.2007.07.004. Epub 2007 Aug 6. Eur J Med Genet. 2007. PMID: 17845869
-
Microphthalmia with linear skin defects syndrome.Pediatr Dermatol. 2013 Nov-Dec;30(6):e230-1. doi: 10.1111/j.1525-1470.2012.01735.x. Epub 2012 May 21. Pediatr Dermatol. 2013. PMID: 22612277
-
Xp22.3 microdeletion syndrome with microphthalmia, sclerocornea, linear skin defects, and congenital heart defects.Am J Med Genet. 1992 Sep 1;44(1):61-5. doi: 10.1002/ajmg.1320440115. Am J Med Genet. 1992. PMID: 1519653
-
Female infant with oncocytic cardiomyopathy and microphthalmia with linear skin defects (MLS): a clue to the pathogenesis of oncocytic cardiomyopathy?Am J Med Genet. 1994 Nov 1;53(2):141-8. doi: 10.1002/ajmg.1320530205. Am J Med Genet. 1994. PMID: 7856638 Review.
-
Another observation of microphthalmia in an XX male: microphthalmia with linear skin defects syndrome without linear skin lesions.J Hum Genet. 1999;44(1):63-8. doi: 10.1007/s100380050110. J Hum Genet. 1999. PMID: 9929982 Review.
Cited by
-
Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease.Am J Hum Genet. 2012 Nov 2;91(5):942-9. doi: 10.1016/j.ajhg.2012.09.016. Am J Hum Genet. 2012. PMID: 23122588 Free PMC article.
-
Mitochondrial cytochrome c biogenesis: no longer an enigma.Trends Biochem Sci. 2015 Aug;40(8):446-55. doi: 10.1016/j.tibs.2015.05.006. Epub 2015 Jun 11. Trends Biochem Sci. 2015. PMID: 26073510 Free PMC article. Review.
-
Microphthalmia, Linear Skin Defects, Callosal Agenesis, and Cleft Palate in a Patient with Deletion at Xp22.3p22.2.J Pediatr Genet. 2020 Dec;9(4):258-262. doi: 10.1055/s-0039-3402047. Epub 2020 Jan 3. J Pediatr Genet. 2020. PMID: 32765930 Free PMC article.
-
Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.Am J Hum Genet. 2015 Apr 2;96(4):640-50. doi: 10.1016/j.ajhg.2015.02.002. Epub 2015 Mar 12. Am J Hum Genet. 2015. PMID: 25772934 Free PMC article.
-
Expanding the phenotypic spectrum of PORCN variants in two males with syndromic microphthalmia.Eur J Hum Genet. 2015 Apr;23(4):551-4. doi: 10.1038/ejhg.2014.135. Epub 2014 Jul 16. Eur J Hum Genet. 2015. PMID: 25026905 Free PMC article.
Publication types
MeSH terms
LinkOut - more resources
Full Text Sources
Medical
