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 the Freire-Maia Odontotrichomelic syndrome: nosology with EEC syndrome.
    Author: Pavone L, Rizzo R, Tiné A, Micali G, Sorge G, Neri G.
    Journal: Am J Med Genet; 1989 Jun; 33(2):190-3. PubMed ID: 2764029.
    Abstract:
    We report on a patient, born to consanguineous parents, who had a complex malformation syndrome of severe upper limbs anomalies, peculiar face, structural ear anomalies, nasolacrimal duct obstruction, and abnormal hair and nails. We think that the clinical manifestations of the patient are similar to those described by Freire-Maia as the odontotrichomelic syndrome; the differential diagnosis between this syndrome and ectrodactyly, ectodermal dysplasia, and cleft/lip palate (EEC) syndrome is discussed.
    [Abstract] [Full Text] [Related] [New Search]