Floating-Harbor syndrome in two unrelated girls: mild short stature in one patient and effective growth hormone therapy in the other.
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.
Wieczorek
D
D
Kinderklinik, Westfälische Wilhelms-Universität Münster, Germany. dagmar.wieczorek@uni-essen.de
Wüsthof
A
A
Harms
E
E
Meinecke
P
P
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
D013006:Growth Hormone