title: Cranioectodermal dysplasia: a new patient with an inapparent, subtle phenotype.
abstract: 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 dolichocephaly and clinodactyly; microdontia, hypodontia, and taurodontia (i.e., cone-shaped teeth); anteverted nares, full cheeks, and everted lower lip; epicanthal folds, hypertelorism and hyperopia; and corpus callosum hypoplasia. She has no rhizomelic limb shortening or hair abnormalities. In view of the rarity of the cranioectodermal dysplasias, the variability of the phenotype, and the uncertain outcome of some previously described patients, we believe this inapparent, subtle case should reported to enable better understanding and treatment of this rare syndrome.
authors.affiliation: Department of Pediatrics, Policlinico Le Scotte, University of Siena, Siena, Italy. zannolli@unisi.it
authors.forename: R
authors.initials: R
authors.lastname: Zannolli
authors.forename: R
authors.initials: R
authors.lastname: Mostardini
authors.forename: M L
authors.initials: ML
authors.lastname: Carpentieri
authors.forename: M G
authors.initials: MG
authors.lastname: Gatti
authors.forename: P
authors.initials: P
authors.lastname: Galluzzi
authors.forename: P
authors.initials: P
authors.lastname: Terrosi Vagnoli
authors.forename: R
authors.initials: R
authors.lastname: Giorgetti
authors.forename: S
authors.initials: S
authors.lastname: Calvieri
authors.forename: G
authors.initials: G
authors.lastname: Morgese
mesh_terms: D001842:Bone and Bones / Q000002:abnormalities; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics*; D004476:Ectodermal Dysplasia / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006197:Hair / Q000002:abnormalities; D006228:Hand Deformities, Congenital / Q000235:genetics*; D006801:Humans; D007558:Italy; D008279:Magnetic Resonance Imaging; D010641:Phenotype; D013577:Syndrome; D014071:Tooth Abnormalities / Q000175:diagnosis