Article
The phenotype of Floating-Harbor syndrome in 10 patients.
American journal of medical genetics. Part A - 1 Apr 2010
White Susan M, Morgan Angela, Da Costa Annette, Lacombe Didier, Knight Samantha J L, Houlston Richard, Whiteford Margo L, Newbury-Ecob Ruth A, Hurst Jane A
Abstract excerpt
Floating-Harbor syndrome (FHS) is a rare condition typified by short stature, speech impairment, delayed bone age, and characteristic facies. The diagnosis can be difficult as the facial changes are subtle in infancy, and the features of short stature, delayed speech, and delayed bone age are frequently encountered in clinical practice. We refine the phenotype in FHS by reporting clinical findings in 10 typically...
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