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.
journal_name
Pediatr Dermatoljournal_title
Pediatric dermatologyauthors
Zannolli R,Mostardini R,Carpentieri ML,Gatti MG,Galluzzi P,Terrosi Vagnoli P,Giorgetti R,Calvieri S,Morgese Gdoi
10.1046/j.1525-1470.2001.01955.xsubject
Has Abstractpub_date
2001-07-01 00:00:00pages
332-5issue
4eissn
0736-8046issn
1525-1470pii
pde1955journal_volume
18pub_type
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