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mandibuloacral dysostosis


Definition: an autosomal recessive disorder, caused by a mutation in the gene LMNA encoding lamin A/C on 1 q. characterized by hypoplastic mandible, dental crowding, acroosteolysis, stiff joints, and atrophy of the skin of the hands and feet; clavicles are hypoplastic, cranial sutures are wide, and multiple sutural bones are present.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.