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A.S. Schneider, T. Bardakjian; Anophthalmia and esophageal atresia: Four new cases from the Anophthalmia/Microphthalmia Registry . Invest. Ophthalmol. Vis. Sci. 2004;45(13):256.
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Purpose: The Anophthalmia/Microphthalmia (A/M) Registry at Albert Einstein Medical Center (AEMC) was established in 1994 to collect clinical data and identify syndromes and associations involving A/M and has been offering eye development gene screening to Registry participants since 1999. Testing involves mutational screening of 17 eye development genes in 8 participating labs in the US and Europe. To date we have collected Clinical Registry information on 200 cases and DNA on 280 affected individuals Methods: A review of the Registry revealed four patients with bilateral anophthalmia, esophageal atresia and genital anomalies Results: There are only 9 cases previously reported in the literature with this association. Our cases appear to be distinct from those already reported in the literature, thus increasing the number of cases to thirteen. Conclusions: Advances in developmental biology have shown that mutations in developmental genes active early in embryogenesis can lead to birth defects in multiple, seemingly unrelated, systems. The network of genes that direct development have been highly conserved through evolution. Several transcription factors have been shown to be important in regulating eye development. Mutations in these developmental genes may be the cause of this clinical association.
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