[Floating-Harbor syndrome: first case in Italy associated with growth hormone deficiency].
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 degrees percentile), height 112 cm (< 3 degrees percentile), cranial circumference 53.8 cm (> 90 degrees 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.
Femiano
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P
Azienda Ospedaliera, Caserta U. O. di Pediatria Ospedale G. Moscati, Avellino. femianop@tin.it
Castaldo
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V
Scarano
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G
D000015:Abnormalities, Multiple; D002648:Child; D019465:Craniofacial Abnormalities; D004392:Dwarfism; D005145:Face / Q000002:abnormalities*; D005500:Follow-Up Studies; D013006:Growth Hormone / Q000172:deficiency*; D006801:Humans; D007558:Italy; D007805:Language Development Disorders; D008297:Male; D010641:Phenotype
D013006:Growth Hormone