Home > Journals > Minerva Pediatrica > Past Issues > Minerva Pediatrica 2000 January-February;52(1-2) > Minerva Pediatrica 2000 January-February;52(1-2):47-54

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Minerva Pediatrica 2000 January-February;52(1-2):47-54

Copyright © 1999 EDIZIONI MINERVA MEDICA

language: English, Italian

Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency

Gabrielli O., Carloni I., Coppa G. V., Bedeschi M. F., Petroncini M. M., Selicorni A.


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The Kabuki syndrome is characterized by mental retardation (mild-to-moderate), skeletal anomalies, typical facial appearance and post-natal growth deficiency. The Authors describe two patients with Kabuki syndrome and proven growth hormone deficiency. The first patient has been on GH replacement therapy for 4 years; the second for 11 years. On the basis of a sufficiently long follow-up period the Authors discuss the advisability of replacement therapy with growth hormone in patients with Kabuki syndrome.

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