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A Journal on Pediatrics, Neonatology, Adolescent Medicine,
Child and Adolescent Psychiatry
Indexed/Abstracted in: CAB, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,532
Minerva Pediatrica 2000 January-February;52(1-2):47-54
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.