Open Access
American Research Journal of Clinical Case Reports
ISSN (Online): 2639-3069
DOI: 10.46568/arjccr
Microphthalmia with Linear Skin Defects (MLS) Syndrome: A Rare Condition Case Report and Review Karla Orsine Murta Dias1, Guilherme Silva Rocha2, Mana Rahimzadeh3, Maria Shkudnova4, A
2Medical Student – Universidade de Uberaba, Uberaba, BR. 3Foundation Year Two Doctor – Epsom and St Helier University Hospitals NHS Trust, London, UK. 4Locum Specialty Registrar – Moorfields Eye Hospital NHS Foundation Trust, London, UK. 5Professor of Ophthalmology, Faculty of Medicine, University of Southampton, Southampton, UK. 6Consultant Ophthalmologist, Moorfields Eye Hospital NHS Foundation Trust, London, UK.
Karla Orsine Murta Dias, Guilherme Silva Rocha, et al., “Microphthalmia with Linear Skin Defects (Mls) Syndrome: A Rare Condition Case Report and Review”, American Research Journal of Clinical Case Reports, Vol
Abstract
The Microphthalmia with Linear Skin Defects (MLS) syndrome, also known as Microphthalmia, Dermal Aplasia and
Sclerocornea (MIDAS) syndrome is a rare genetic neurodevelopmental condition that is presented in females at birth.
We describe a case of a newborn daughter of a healthy non-consanguinous couple with ophthalmological, neurological,
dermatological and cardiological findings that suggested the condition, which was genetically proved by her DNA
analysis.
KEywORDS: Michophthalmia, Skin defectcs, Sclerocornea, Genetic
