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Ectrodactyly and glaucoma associated with a 7q21.2-q31.2 interstitial deletion
T L Montgomery1, J Wyllie, C Oley
1Department of Clinical Genetics, Northern Genetics Service, Newcastle Upon Tyne, UK.
Clinical Dysmorphology
|October 25, 2000
Abstract:
An infant with ectrodactyly, glaucoma, cleft palate, congenital heart defect and genital anomalies associated with a 7(q21.2q31.2) deletion is presented. Glaucoma and ectrodactyly in association with a 7q deletion has not been previously reported. We recommend that early ophthalmological assessment is required in infants with such deletions.