Cleft Palate Cran J
-
Cleft Palate Cran J · Jul 2018
Review Case ReportsCleidocranial Dysplasia with 6p21.1-p12.3 Microdeletion: A Case Report and Literature Review.
The aim of this article is to publish a literature review and report on a new case of cleidocranial dysplasia syndrome with 6p21.1-p12.3 microdeletion. ⋯ We report a near-term neonate with characteristic features of cleidocranial dysplasia and a 6p21.1-p12.3 microdeletion. Cleidocranial dysplasia syndrome is a rare autosomal dominant skeletal dysplasia. The mutation of the RUNX2 gene results in cleidocranial dysplasia syndrome.