Article
Cranioectodermal dysplasia: a new patient with an inapparent, subtle phenotype.
Pediatric dermatology - 1 Jan 2000
Zannolli R, Mostardini R, Carpentieri M L, Gatti M G, Galluzzi P, Terrosi Vagnoli P, Giorgetti R, Calvieri S, Morgese G
Abstract excerpt
Cranioectodermal dysplasia is a rare syndrome characterized by craniofacial and skeletal anomalies and ectodermal dysplasia. Life-threatening associated conditions (i.e., kidney failure and abnormal regulation of the parathyroid-bone axis) can also develop. We report a patient whose features are suggestive of an inapparent, subtle phenotype of the syndrome. The patient is a 4-year-old girl with only...
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