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A variant example of familial Floating-Harbor syndrome?
J M Peñaloza1, D García-Cruz, I P Dávalos
1Divisiones de Genética, Centro de Investigación Biomédica de Occidente, CMNO, IMSS, Guadalajara, Jalisco, México.
Genetic Counseling (Geneva, Switzerland)
|May 3, 2003
Abstract:
The Floating-Harbor syndrome (FHS) is clinically characterized by short stature, retarded speech development, delayed bone age, typical facies, bulbous nose, wide columella, thin lips. Four cases with celiac disease have been described previously. In two other cases, autosomal dominant inheritance has been suggested. We describe a boy aged 2 years 11 months with clinical features of FHS and celiac disease. His mother also presents minor phenotypical characteristics, suggesting that the present observation corresponds to a variant example of familial FHS.