title: Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency.
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 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.
authors.affiliation: Department of Paediatrics, University of Ancona.
authors.forename: O
authors.initials: O
authors.lastname: Gabrielli
authors.forename: I
authors.initials: I
authors.lastname: Carloni
authors.forename: G V
authors.initials: GV
authors.lastname: Coppa
authors.forename: M F
authors.initials: MF
authors.lastname: Bedeschi
authors.forename: M M
authors.initials: MM
authors.lastname: Petroncini
authors.forename: A
authors.initials: A
authors.lastname: Selicorni
mesh_terms: D000015:Abnormalities, Multiple; D002648:Child; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D019382:Human Growth Hormone / Q000172:deficiency*; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis; D008297:Male; D009123:Muscle Hypotonia / Q000175:diagnosis; D010902:Pituitary Gland / Q000503:physiopathology; D013577:Syndrome
chemical_list: D019382:Human Growth Hormone