Abstract

Caudal regression syndrome (CRS) is a rare embryopathy characterized by maldevelopment of the vertebrae, visceral organs, and lower extremities. Patients with CRS have deformities of the sacrococcygeal vertebrae and develop neurogenic bladder from dysfunction of the sacral nerve root. 1 Escobar L.F. Weaver D.D. Caudal regression syndrome. in: Buyse M.L. Birth defects encyclopedia. Blackwell Scientific, Cambridge (MA)1990: 296-297 Google Scholar , 2 Adra A. Cordero D. Mejides A. Yasin S. Salman F. O’Sullivan M. Caudal regression syndrome etiopathogenesis, prenatal diagnosis, and perinatal management. Obstet Gynecol Surv. 1994; 49: 508-516 Crossref PubMed Scopus (75) Google Scholar , 3 Russell L.J. Weaver D.D. Bull M.J. The axial mesodermal dysplastic spectrum. Pediatrics. 1981; 67: 176-182 PubMed Google Scholar Additional anomalies include congenital heart defects, intestinal malrotation, agenesis of the genitourinary system, imperforate anus, and malformation of the lower limbs. 1 Escobar L.F. Weaver D.D. Caudal regression syndrome. in: Buyse M.L. Birth defects encyclopedia. Blackwell Scientific, Cambridge (MA)1990: 296-297 Google Scholar , 2 Adra A. Cordero D. Mejides A. Yasin S. Salman F. O’Sullivan M. Caudal regression syndrome etiopathogenesis, prenatal diagnosis, and perinatal management. Obstet Gynecol Surv. 1994; 49: 508-516 Crossref PubMed Scopus (75) Google Scholar , 3 Russell L.J. Weaver D.D. Bull M.J. The axial mesodermal dysplastic spectrum. Pediatrics. 1981; 67: 176-182 PubMed Google Scholar Ocular findings described in the nonophthalmic literature have been confined to hypertelorism, epibulbar dermoid, and anophthalmia. 3 Russell L.J. Weaver D.D. Bull M.J. The axial mesodermal dysplastic spectrum. Pediatrics. 1981; 67: 176-182 PubMed Google Scholar , 4 Bini R. Danti D.A. Materassi M. Pela I. Report of a new case of axial mesodermal dysplasia complex. Clin Genet. 1996; 50: 407-410 Crossref PubMed Scopus (7) Google Scholar We report a patient with CRS who presented with infantile glaucoma and punctal atresia. A computerized search of the medical literature showed no previous reports of CRS in ophthalmic journals and no previous reports of an association with glaucoma or nasolacrimal anomalies.

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