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Jacobsenov syndróm distálnej delécie 11q
Subject h. Jacobsenov syndróm distálnej delécie 11q Subject h. Jacobsen Distal 11q Deletion Syndrome Entry terms porucha s deléciou 11q
Jacobsenov syndrómEnglish X references 11q Deletion Disorder
Jacobsen SyndromeScope note in English A clinically recognized congenital malformation condition caused by a distal 11q deletion. The features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, and hammertoes. Platelet dysfunction is a feature in Paris-Trousseau type thrombocytopenia. 
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