Journal Article

Microphthalmia with linear skin defects syndrome (MIDAS)

Oliveira, Inês, Póvoas, Marta, Banganho, Denise, Machado, Catarina

2019

Overview

Microphthalmia with linear skin defects syndrome (MIDAS) (MIM 309801) is a rare syndrome with an X-linked dominant transmission pattern, with male lethality.1 It is associated with deletions or unbalanced translocations in the short arm of X-chromosome (Xp22.3).2 Most cases are de novo, but familial recurrence has been described, with no clear genotype–phenotype correlations.3 The most consistent clinical features of MIDAS are microphthalmia and/or anophthalmia, sclerocornea and linear skin defects with dermal aplasia limited to face and neck, which were all present in this case and raised the clinical suspicion before the final diagnosis. Nervous system and cardiac anomalies, development delay, diaphragmatic hernia and genitourinary tract abnormalities, hearing loss and anal atresia with ectopic anus and fistula can also be present.1–3 The use of array CGH as the first laboratorial approach in the investigation of a newborn with a predicted diagnosis of MIDAS syndrome can confirm the diagnosis and may identify unsuspected copy number variants.3 The phenotype associated with the deletion found, can range from no clinical signs to in utero lethality, depending not only on somatic mosaicism, but also on cell selection mechanisms.3 The contribution of the duplication (Xp22.2p21.1) to the clinical manifestations here is unknown. Clinical spectrum of females with HCCS mutation: from no clinical signs to a neonatal lethal form of the microphthalmia with linear skin defects (MLS) syndrome.

• Publisher: BMJ Publishing Group LTD,BMJ Publishing Group
• Subject: Abnormalities, Multiple - genetics / Abnormalities, Multiple - pathology / Anti-Arrhythmia Agents - therapeutic use / Case reports / Chromosomes, Human, X - genetics / Defects / Female / Genetic Diseases, X-Linked - diagnosis / Genetic Diseases, X-Linked - genetics / Genetic Diseases, X-Linked - physiopathology / Genetic Diseases, X-Linked - therapy / Genetic Linkage / Humans / Images In / Infant, Newborn / Microphthalmos - diagnosis / Microphthalmos - genetics / Microphthalmos - physiopathology / Microphthalmos - therapy / Newborn babies / NMR / Nuclear magnetic resonance / Propranolol - therapeutic use / Skin Abnormalities - diagnosis / Skin Abnormalities - genetics / Skin Abnormalities - physiopathology / Skin Abnormalities - therapy / Syndrome