Anterior Segment Developmental Anomalies in a 33-Week-Old Fetus with MIDAS Syndrome

作者：Herwig Martina C; Loeffler Karin U; Gembruch Ulrich; Kuchelmeister Klaus; Mueller Annette M

来源：Pediatric and Developmental Pathology, 2014, 17(6): 491-495.

DOI：10.2350/13-11-1408-CR.1

• anterior segment dysgenesis
• anterior segment developmental anomalies
• sclerocornea
• Peters%26apos
• anomaly
• MIDAS syndrome
• fetus

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%26apos; 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.

• 出版日期2014-12