Bilateral extreme microphthalmos.
A case of bilateral extreme microphthalmos is reported. Autopsy of a one-day-old full-term female revealed multiple congenital anomalies which included occipital encephalocele, cleft palate, hips which could not be abducted, long fingers and toes, and cardiovascular malformations. Chromosomal analysis showed a normal 46 XX karyotype. Ocular findings in this case included clinical anophthalmos with bilateral fused eyelids, optic nerve aplasia, absent cornea and lens, and retinal dysplasia. The distinctions between anophthalmos and varying degrees of microphthalmos are discussed. The insult causing abnormal development in this case appears to have occurred during the first trimester of pregnancy. There were no prenatal or delivery complications. A genetic abnormality was considered since two older siblings have birth defects. Also discussed is the possibility of a combined genetic and environmental etiology.
D000015:Abnormalities, Multiple / Q000473:pathology; D001344:Autopsy; D005123:Eye / Q000473:pathology; D005260:Female; D007839:Functional Laterality; D006801:Humans; D007231:Infant, Newborn; D008850:Microphthalmos / Q000473:pathology*; D013194:Staining and Labeling