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Home > Journals > Minerva Pediatrica > Past Issues > Minerva Pediatrica 2000 April;52(4) > Minerva Pediatrica 2000 April;52(4):227-30



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

Frequency: Bi-Monthly

ISSN 0026-4946

Online ISSN 1827-1715


Minerva Pediatrica 2000 April;52(4):227-30


Floating-Harbor syndrome: first case in Italy. Evidence of growth hormone deficiency

Femiano P., Castaldo V., Scarano G.

The Floating-Harbor Syndrome (FHS) is a rare entity characterised by a clinical triad: facial dysmorphism, retarded speech development and short stature with delayed bone age. The case of a 9-year and 8/12 months old boy showing the typical features of this syndrome associated to a severe GH deficiency is reported. At diagnosis of FHS, the weight was 16 kg (<3° percentile), height 112 cm (<3° percentile), cranial circumference 53.8 cm (>90° percentile). The evaluation of growth hormone secretion by two Insulin Tolerance Tests confirmed an insufficient GH peaks response (2.7 ng/ml and 4.6 ng/ml). He had a slight mental delay (IQ: 60) involving language skills. After 1 year of treatment with r-hGH (0.6 IU/kg/week), an increase in growth velocity (11 cm/year) in the length (123 cm), and in body weight (20.5) has been observed. This case is the 22nd report with this syndrome and the first in Italy. The association between GH deficiency and FHS,and the beneficial effects of a substitutive treatment are described.

language: Italian


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