关键词: MIDAS syndrome Peters' anomaly anterior segment developmental anomalies anterior segment dysgenesis fetus sclerocornea

Mesh : Abortion, Induced Adult Anterior Eye Segment / abnormalities embryology Autopsy Cornea / abnormalities embryology Corneal Diseases / diagnosis embryology genetics Corneal Opacity / diagnosis embryology genetics Eye Abnormalities / diagnosis embryology genetics Female Genetic Diseases, X-Linked / diagnosis embryology genetics Gestational Age Humans Microphthalmos / diagnosis embryology genetics Pregnancy Skin Abnormalities / diagnosis embryology genetics

来  源:   DOI:10.2350/13-11-1408-CR.1

Abstract:
We report anterior segment abnormalities in both eyes of a 33-week-old fetus endorsing the diagnosis of MIDAS (microphthalmia, dermal aplasia, and sclerocornea) syndrome. After abortion, the fetus was examined by a standard pediatric autopsy that included macroscopic and microscopic examination of both eyes. Postmortem findings included craniofacial stigmata (such as hypertelorism, a flat nose and low-set ears) and an agenesis of the corpus callosum. Array comparative genomic hybridization revealed a deletion of the short arm of the X chromosome (region Xp22.2 to p22.32). Ophthalmopathologic examination of the eyes revealed microphthalmia with anterior segment developmental anomalies, in particular sclerocornea and Peters\' anomaly, respectively. General pathology findings plus the ocular findings allowed the diagnosis of MIDAS syndrome. A discussion of differential diagnoses is provided. This case report indicates that ophthalmopathologic investigation of fetal eyes can be of great value for the further classification of syndromes.
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