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Mandibulo-acral dysplasia in a one-year-old boy
G Vantrappen1, L Feenstra, C Macours-Verelst
1Department of Oto-Rhino-Laryngology, Head and Neck Surgery, University Hospital Leuven, Belgium.
Abstract:
We report on a 1-year-old boy with Mandibulo-acral dysplasia, a rare autosomal recessive syndrome (MIM 248370). He presented at the age of 6 months with short stature, scarce brittle hair and thin skin mainly on the skull with visible veins. The facial appearance was typical with micrognathia, prominent eyes and a thin nose. Hypoplastic terminal phalanges and acroosteolysis were present. Psychomotor development is normal.
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