Medicine and Health Sciences
Craniometaphyseal dysplasia (CMD; OMIM #123000) is a rare genetic disorder characterized by hyperostosis of craniofacial bones and metaphyseal flaring of long bones. Progressive bone thickening causes foraminal stenosis, which leads to the compression of cranial nerves and resultant facial palsy, hearing loss, and blindness. CMD is inherited as an autosomal dominant trait or occurs sporadically with apparent de novo mutations (1, 2). Here, we present two novel large deletions in exons 7 and 10 of ANKH from two unrelated patients without the family history of CMD manifesting severe forms of the disorder.
Dutra, Elaine H.; Chen, I-Ping; and Reichenberger, Ernst J., "Two Novel Large ANKH Deletion Mutations in Sporadic Cases With Craniometaphyseal Dysplasia" (2012). UCHC Articles - Research. 104.