{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T13:32:03Z","timestamp":1790775123681,"version":"4.1.0"},"reference-count":74,"publisher":"BMJ","issue":"8","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[1993,8]]},"abstract":"<jats:p>A new classification of microphthalmos and coloboma is proposed to bring order to the complexity of clinical and aetiological heterogeneity of these conditions. A phenotypic classification is presented which may help the clinician to give a systematic description of the anomalies. The phenotype does not predict the aetiology but a systematic description of ocular and systemic anomalies improves syndrome identification. There are two major classes, total and partial microphthalmos, and a subclassification which follows the embryology of the anomalies. The aetiological classification consists of three classes: (1) genetic (monogenic and chromosomal), (2) prenatally acquired (teratological agents and intrauterine deformations), and (3) associations. Genetic disorders give rise to malformations; prenatally acquired anomalies are disruptions or deformations. The aetiological classification can be applied to other congenital birth defects and improves counselling of families. Recurrence risks vary considerably between the classes.<\/jats:p>","DOI":"10.1136\/jmg.30.8.664","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T15:23:16Z","timestamp":1226330596000},"page":"664-669","source":"Crossref","is-referenced-by-count":141,"title":["Classification of microphthalmos and coloboma."],"prefix":"10.1136","volume":"30","author":[{"given":"M","family":"Warburg","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"239","published-online":{"date-parts":[[1993,8,1]]},"reference":[{"key":"ref_1","first-page":"57","article-title":"EUROCA T report 2. Surveillance of congenital anomalies. Years 1980-1984","author":"P, De Wals","year":"1987","unstructured":"De Wals P, Lechat MF, eds. EUROCA T report 2. Surveillance of congenital anomalies. Years 1980-1984. 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