Αρχειοθήκη ιστολογίου

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Παρασκευή 19 Οκτωβρίου 2018

Copper Beaten Skull

A 5-year-old boy was referred for evaluation of dysmorphic facial features. Examination revealed a small forehead, bilateral proptosis, hypertelorism, flat nasal bridge, hypoplasia of the maxilla, and overcrowding of teeth. Near similar facial features were seen in his mother and younger brother. Genetic evaluation of the brothers and mother revealed FGFR2 10q26.13 gene mutation. Crouzon syndrome was diagnosed. This syndrome is characterized by premature craniosynostosis and inherited as an autosomal-dominant trait.

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