Microphthalmia with linear skin defects syndrome (MIDAS)

BMJ Case Rep. 2019 Apr 23;12(4):e227791. doi: 10.1136/bcr-2018-227791.

Authors

Denise Banganho¹, Inês Oliveira¹, Catarina Machado², Marta Póvoas¹

Affiliations

¹ Department of Pediatrics, Hospital de São Bernardo, Centro Hospitalar de Setúbal, EPE, Setúbal, Portugal.
² Department of Genetics, Centro Hospitalar Universitário Lisboa Norte, EPE, Lisboa, Portugal.

No abstract available

Keywords: congenital disorders; dermatology; genetic screening/counselling; neonatal health; ophthalmology.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Abnormalities, Multiple / pathology
Anti-Arrhythmia Agents / therapeutic use*
Chromosomes, Human, X / genetics
Female
Genetic Diseases, X-Linked / diagnosis*
Genetic Diseases, X-Linked / genetics
Genetic Diseases, X-Linked / physiopathology
Genetic Diseases, X-Linked / therapy
Genetic Linkage
Humans
Infant, Newborn
Microphthalmos / diagnosis*
Microphthalmos / genetics
Microphthalmos / physiopathology
Microphthalmos / therapy
Propranolol / therapeutic use*
Skin Abnormalities / diagnosis*
Skin Abnormalities / genetics
Skin Abnormalities / physiopathology
Skin Abnormalities / therapy
Syndrome

Substances

Anti-Arrhythmia Agents
Propranolol

Supplementary concepts

Microphthalmia, syndromic 7