Abstract
We report on a 17-year-old young woman with a speech impediment, developmental delay, short stature, and facial anomalies consistent with the Floating-Harbor syndrome (FHS). In addition, she has clinical and histological evidence of celiac disease, which was observed in 1 of the 6 previously reported cases of FHS, suggesting a possible association between the 2 conditions or pleiotropism of a presumed autosomal recessive disorder.
Publication types
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Research Support, Non-U.S. Gov't
MeSH terms
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Adolescent
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Bone Diseases, Developmental / classification
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Bone Diseases, Developmental / complications
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Bone Diseases, Developmental / genetics*
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Celiac Disease / classification
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Celiac Disease / complications
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Celiac Disease / genetics*
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Chromosome Aberrations
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Facial Expression*
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Female
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Genes, Recessive
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Genetic Variation
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Growth Disorders / genetics*
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Humans
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Language Development Disorders / genetics*