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We have evaluated a patient with Jacobsen syndrome. The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior(More)
BACKGROUND AND PURPOSE Mutation of the neurofibromatosis type 1 (NF-1) gene may be associated with abnormal growth control in the brain. Because macrocephaly could be a sign of abnormal brain(More)