These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: A case of ankyloblepharon, ectodermal dysplasia, and cleft lip/palate syndrome with ectrodactyly: are the p63 syndromes distinct after all?
    Author: Chiu YE, Drolet BA, Duffy KJ, Holland KE.
    Journal: Pediatr Dermatol; 2011; 28(1):15-9. PubMed ID: 19793345.
    Abstract:
    Ectodermal dysplasias are diseases with abnormal development of ectodermally derived tissues such as skin, hair, teeth, and nails. Mutations in the transcription factor p63 have been linked to several syndromes characterized by ectodermal, orofacial, and limb defects. We present the case of an infant with ankyloblepharon, cleft palate, scalp dermatitis, and ectrodactyly. She is unique for having a novel p63 mutation that has not been previously reported. Her case also points to the significant overlap between the p63-associated ectodermal dysplasias and challenges the traditional diagnostic schema for these rare syndromes.
    [Abstract] [Full Text] [Related] [New Search]