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

TitleLong-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency.
Publication TypeJournal Article
Year of Publication2000
AuthorsGabrielli O, Carloni I, Coppa GV, Bedeschi MF, Petroncini MM, Selicorni A
JournalMinerva pediatrica
Volume52
Issue1-2
Pagination47-53
Date Published2000 Jan-Feb
Abstract

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 GHi 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.

Alternate JournalMinerva Pediatr.
Citation Key10829592