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: Robinow syndrome in two siblings from consanguineous parents.
    Author: Schorderet DF, Dahoun S, Defrance I, Nusslé D, Morris MA.
    Journal: Eur J Pediatr; 1992 Aug; 151(8):586-9. PubMed ID: 1505578.
    Abstract:
    A Kurdish family had two children affected with Robinow syndrome. The daughter had short stature, macrocephaly, hypertelorism, hepatosplenomegaly, short forearms and marked vertebral anomalies. Her brother had hypertelorism, hypertrophied alveolar ridges, hepatosplenomegaly, short forearms, rib anomaly and ambiguous genitalia. The karyotype of the affected male sibling showed mosaicism for 45X, 46,X,dicY(q11.22), 47,X,dicY(q11.22),dicY(q11.22).
    [Abstract] [Full Text] [Related] [New Search]