ESPE Abstracts

Introduction: Floating-Harbor syndrome is a rare autosomal dominant genetic disorder caused by mutations in SRCAP gene. This condition is characterized by dysmorphic facial features, short stature and expressive language delay. Here we present a clinical case of a child with Floating-Harbor syndrome.

Clinical case: A girl to consanguineous healthy parents was born at 37 gestation weeks with height 47 cm (SDS=-0,46) and weight 2240 g (SDS=-1,6). Poor growth has been noticed since birth. The examination at 3,5 years of age showed severe proportional short stature (height SDS = -3,6) with significantly delayed bone age (15 months), normal IGF 1 (108.7 ng/ml), normal pituitary hormones and a peak growth hormone response of 18,7 ng/ml (> 8 ng/ml) on standard glucagon stimulation test. The girl has distinctive dysmorphic features such as bluish sclera, long eyelashes, wide columella, short filter and broad mouth with thin upper lip, teeth hypoplasia and brachydactyly, and was diagnosed with expressive language delay. A known denovo heterozygous c.7330C>T: p.R2444X mutation in SRCAP gene was identified using whole exome sequencing. Based on genetic results Floating-Harbor syndrome was diagnosed, fully explaining patient`s phenotype. Follow up examination at the age of 4 years showed progression in growth retardation (height SDS = -4,11) and the girl was started on recombinant growth hormone (rGH) therapy with a dose of 0.033 mg/kg/day.

Conclusion: Floating-Harbor syndrome is a rare cause of severe short stature in children. Further studies are necessary to evaluate the effectiveness and safety of rhGH therapy in these patients.