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: An unusual combination: aortic arch coarctation associated with Dandy-Walker variant.
    Author: Akgul A, Babaroglu S, Bahar I, Bokesoy I, Birincioğlu L, Cobanoglu A.
    Journal: Int J Cardiol; 2006 Nov 10; 113(2):258-60. PubMed ID: 16297468.
    Abstract:
    We report on a 29-year-old woman with aortic arch coarctation with cerebral anomalies including posterior fossa cyst, hydrocephalus, cerebellar vermis hypoplasia and multiple congenital anomalies including hirsutism, hipotelorism, shortened philtrum, unregulated teeth and short alveolar crest, rotated auricles, short and webbed neck, hypopigmentation on the scalp, bilateral clinodactyly, bilateral hallux valgus, brachydactyly on the left foot 3rd finger, hemangioma on the sacrum. An extra-anatomical bypass was made by grafting from the ascending to the distal descending aorta. Some of these features are consistent with the diagnosis of the other clinical syndromes except genetical expression, no chromosomal deletions in our patient with normal familial pedigree, however, cerebral anomalies are consistent with the Dandy-Walker variant. To the best of our knowledge, literature contains no other report of the association of aortic coarctation, Dandy-Walker variant with these clinical features. These previously undescribed combinations, however, raise the possibility of a newly recognized disorder.
    [Abstract] [Full Text] [Related] [New Search]