Association of anophthalmia and esophageal atresia: four new cases identified by the anophthalmia/microphthalmia clinical registry.
We report four new cases of the rare association of anophthalmia and esophageal atresia. There are only nine cases previously reported in the literature with this association. Our cases appear to be distinct from those already reported, thus increasing the number of cases to thirteen. 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 directs development has 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.
Bardakjian
Tanya M
TM
Division of Genetics, Department of Pediatrics, Albert Einstein Medical Center, Philadelphia, Pennsylvania, USA.
Schneider
Adele
A
D000015:Abnormalities, Multiple / Q000235:genetics / Q000473:pathology; D000853:Anophthalmos / Q000473:pathology*; D004933:Esophageal Atresia / Q000473:pathology*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D012042:Registries / Q000706:statistics & numerical data