Floating Harbor syndrome. Case report and further syndrome delineation.
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.
Midro
A T
AT
Department of Clinical Genetics, Medical Faculty, Bialystok, Poland.
Olchowik
B
B
Rogowska
M
M
Hubert
E
E
Hassman-Poznańska
E
E
Papasz
A
A
Szulc
S
S
Wiśniewski
A
A
D000015:Abnormalities, Multiple / Q000235:genetics*; D000365:Age Determination by Skeleton; D002648:Child; D019465:Craniofacial Abnormalities / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000235:genetics*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D010641:Phenotype; D013577:Syndrome