Long-term hormone replacement therapy in two patients with Kabuki syndrome and growth hormone deficiency.
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.
Gabrielli
O
O
Department of Paediatrics, University of Ancona.
Carloni
I
I
Coppa
G V
GV
Bedeschi
M F
MF
Petroncini
M M
MM
Selicorni
A
A
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
D019382:Human Growth Hormone