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The Floating-Harbor syndrome: two affected siblings in a family |
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| Authors: | J. P. Fryns A. Kleczkowska J. Timmermans H. van den Berghe |
| Affiliation: | Centre for Human Genetics, University of Leuven;Paediatrician, Bree, Belgium |
| Abstract: | In this report we describe two siblings with pre-and postnatal growth retardation and clinical signs and symptoms most compatible with the diagnosis of Floating-Harbor syndrome. The oldest sibling, a girl, died in the first year of life from recurrent infections. The younger sibling, a male, is now 16.5 years old and mildly mentally retarded. |
| Keywords: | autosomal recessive inheritance Floating-Harbor syndrome MCA/MR syndrome prenatal growth retardation |