RESUMO
Floating Harbor syndrome was diagnosed in a 9 years old girl on the basis of short stature, delayed bone age, mild mental retardation, speech problems and specific craniofacial features. A detailed phenotype description is given and evaluated together with 18 other published case reports according to the concept of the Munich Dysmorphology Database (Stengel-Rutkowski et al., 1996) with the aim to delineate the spectrum of clinical and anthropological features.
Assuntos
Anormalidades Múltiplas/genética , Anormalidades Craniofaciais/genética , Transtornos do Crescimento/genética , Deficiência Intelectual/genética , Determinação da Idade pelo Esqueleto , Criança , Feminino , Humanos , Fenótipo , SíndromeRESUMO
Floating-Harbor syndrome, a genetic disorder of unknown etiology, was diagnosed in a 9-year-old girl with delayed morphologic, bone and dental age, lateral asymmetry of the body, triangular face, hypotelorism, broad palpepral fissures, long eye-lashes, narrow jaw, retrogenia, a defect of phonemic audition and speech delay with poor articulation. Similarity between Floating-Harbor syndrome and Silver-Russel syndrome is discussed.
