Ectrodactyly and glaucoma associated with a 7q21.2‐q31.2 interstitial deletion

摘要

NA;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.