Cranioectodermal dysplasia: A new patient with an inapparent, subtle phenotype

Cranioectodermal dysplasia is a rare syndrome characterized by craniofacial and skeletal anomalies and ectodermal dysplasia. Life-threatening associat ed conditions (i.e., kidney failure and abnormal regulation of the parathyr oid-bone axis) can also develop. We report a patient whose features are sug gestive of an inapparent, subtle phenotype of the syndrome. The patient is a 4-year-old girl with only dolichocephaly and clinodactyly; microdontia, h ypodontia, and taurodontia (i.e., cone-shaped teeth); anteverted nares, ful l cheeks, and everted lower lip; epicanthal folds, hypertelorism and hypero pia; and corpus callosum hypoplasia. She has no rhizomelic limb shortening or hair abnormalities. In view of the rarity of the cranioectodermal dyspla sias, the variability of the phenotype, and the uncertain outcome of some p reviously described patients, we believe this inapparent, subtle case shoul d reported to enable better understanding and treatment of this rare syndro me.