| Literature DB >> 11746027 |
D Wieczorek1, A Wüsthof, E Harms, P Meinecke.
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. Copyright 2001 Wiley-Liss, Inc.Entities:
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Year: 2001 PMID: 11746027 DOI: 10.1002/ajmg.1585
Source DB: PubMed Journal: Am J Med Genet ISSN: 0148-7299