CASE REPORT   

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.

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.