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: Congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth in four siblings: a new syndrome?
    Author: Steijlen PM, Neumann HA, der Kinderen DJ, Smeets DF, van der Kerkhof PC, Happle R.
    Journal: J Am Acad Dermatol; 1994 May; 30(5 Pt 2):893-8. PubMed ID: 8169270.
    Abstract:
    A syndrome of congenital atrichia, palmoplantar hyperkeratosis, mental retardation, and early loss of teeth was observed in four siblings (three women and one man). The pedigree is suggestive of either an autosomal recessive mode of inheritance or the inheritance of a (small) chromosomal translocation. This combination of findings has not been previously reported and is therefore considered to be a new genetic entity.
    [Abstract] [Full Text] [Related] [New Search]