Počet záznamov: 1
Jacobsenov syndróm distálnej delécie 11q
Heslo Jacobsenov syndróm distálnej delécie 11q Heslo anglicky Jacobsen Distal 11q Deletion Syndrome Odkazy porucha s deléciou 11q
Jacobsenov syndrómAngl. X odkazy 11q Deletion Disorder
Jacobsen SyndromeVysvetľujúca pozn. v angl. 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. 
predmetové heslo
Počet záznamov: 1