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 newly recognized craniosynostosis syndrome with features of Aarskog-Scott and Teebi syndromes.
    Author: Hoffman JD, Irons M, Schwartz CE, Medne L, Zackai EH.
    Journal: Am J Med Genet A; 2007 Jun 15; 143A(12):1282-6. PubMed ID: 17506099.
    Abstract:
    We present two unrelated boys with craniosynostosis and similar facial features including hypertelorism, down-slanted palpebral fissures, ptosis, broad mouth with a thin upper lip, and preauricular pits. Both patients had short, broad first digits as well as short, broad hands. Both also had respiratory difficulties and umbilical abnormalities. Although, many of these features are seen in Aarskog-Scott and in Teebi hypertelorism syndromes, both children had craniosynostosis, which has not been previously reported in either syndrome. We propose that these children may have a previously unreported syndrome consistent with X-linked inheritance, although an autosomal dominant mode of transmission cannot be excluded.
    [Abstract] [Full Text] [Related] [New Search]