In a one-year-old female patient, unilateral anophthalmos was ascertained by clinical, echographic and X-ray examination. In addition, the cranial computer tomogram showed trabecular agenesia. The globe of the other eye was existent and was enlarged by hydrophthalmos. Pediatrically this case represents a syndrome with multiple anomalies of etiologically unknown origin; apart from the ocular malformation there are a severe cerebral developmental disturbance, an apallic syndrome, hypsarrhythmia, peculiar disproportional bodily structure with skeletal anomalies as well as an abnormal susceptibility to infections of the respiratory system and a marked, isolated IgA-deficiency. Neither chromosomal anomaly nor familiarity was discovered.

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http://dx.doi.org/10.1055/s-2008-1057724DOI Listing

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