title: Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other.
abstract: We report two female patients, 11 and eight years old, with clinical findings consistent with the Floating-Harbor syndrome (FHS). The first patient presented with characteristic facial features, brachydactyly, broad thumbs, and delay of speech development, but less pronounced short stature (-2 standard deviation (SD) below mean) than previously reported. The second patient presented with short stature, characteristic facial features, brachydactyly, and delay of speech as well as mental development; she was successfully treated with growth hormone. Metacarpophalangeal pattern profiles (MCPP) were performed in both patients and compared to those of previously published patients.
authors.affiliation: Kinderklinik, Westfälische Wilhelms-Universität Münster, Germany. dagmar.wieczorek@uni-essen.de
authors.forename: D
authors.initials: D
authors.lastname: Wieczorek
authors.forename: A
authors.initials: A
authors.lastname: Wüsthof
authors.forename: E
authors.initials: E
authors.lastname: Harms
authors.forename: P
authors.initials: P
authors.lastname: Meinecke
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002648:Child; D019465:Craniofacial Abnormalities / Q000175:diagnosis*; D005260:Female; D006128:Growth / Q000187:drug effects; D006130:Growth Disorders / Q000175:diagnosis / Q000188:drug therapy*; D013006:Growth Hormone / Q000172:deficiency / Q000627:therapeutic use*; D006801:Humans; D013064:Speech Disorders / Q000175:diagnosis; D013577:Syndrome; D016896:Treatment Outcome
chemical_list: D013006:Growth Hormone