Literature DB >> 10532176

Aortic dissection, patent ductus arteriosus, iris hypoplasia and brachytelephalangy in a male adolescent.

L C Adès1, R Davies, E A Haan, K J Holman, K C Watson, D Sreetharan, S N Cao, D M Milewicz, J F Bateman, A A Chiodo, M Eccles, L McNoe, M Harbord.   

Abstract

We describe a 14-year-old male with dissection of the descending aorta, bilateral iris hypoplasia, striae distensae and brachytelephalangy, the latter being most marked in the thumbs. Inguinal herniae and a patent ductus arteriosus were surgically repaired in infancy. The pattern of abnormalities may constitute a previously undescribed syndrome. The proband died suddenly at the age of 17 years.

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Year:  1999        PMID： 10532176

Source DB:  PubMed          Journal:  Clin Dysmorphol        ISSN： 0962-8827            Impact factor:   0.816


  5 in total

1.  De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction.

Authors:  Dianna M Milewicz; John R Østergaard; Leena M Ala-Kokko; Nadia Khan; Dorothy K Grange; Roberto Mendoza-Londono; Timothy J Bradley; Ann Haskins Olney; Lesley Adès; Joseph F Maher; Dongchuan Guo; L Maximilian Buja; Dong Kim; James C Hyland; Ellen S Regalado
Journal:  Am J Med Genet A       Date:  2010-10       Impact factor: 2.802

2.  A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations.

Authors:  Pinki Munot; Dawn E Saunders; Dianna M Milewicz; Ellen S Regalado; John R Ostergaard; Kees P Braun; Timothy Kerr; Klaske D Lichtenbelt; Sunny Philip; Christopher Rittey; Thomas S Jacques; Timothy C Cox; Vijeya Ganesan
Journal:  Brain       Date:  2012-07-24       Impact factor: 13.501

3.  Eye features in three Danish patients with multisystemic smooth muscle dysfunction syndrome.

Authors:  Hans Ulrik Moller; Hans C Fledelius; Dianna M Milewicz; Ellen S Regalado; John R Ostergaard
Journal:  Br J Ophthalmol       Date:  2012-07-11       Impact factor: 4.638

4.  Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.

Authors:  Ellen S Regalado; Lauren Mellor-Crummey; Julie De Backer; Alan C Braverman; Lesley Ades; Susan Benedict; Timothy J Bradley; M Elizabeth Brickner; Kathryn C Chatfield; Anne Child; Cori Feist; Kathryn W Holmes; Glen Iannucci; Birgit Lorenz; Paul Mark; Takayuki Morisaki; Hiroko Morisaki; Shaine A Morris; Anna L Mitchell; John R Ostergaard; Julie Richer; Denver Sallee; Sherene Shalhub; Mustafa Tekin; Anthony Estrera; Patricia Musolino; Anji Yetman; Reed Pyeritz; Dianna M Milewicz
Journal:  Genet Med       Date:  2018-01-04       Impact factor: 8.822

5.  High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report.

Authors:  Aisling B Mc Glacken-Byrne; David Prentice; Danial Roshandel; Michael R Brown; Philip Tuch; Kyle S-Y Yau; Padma Sivadorai; Mark R Davis; Nigel G Laing; Fred K Chen
Journal:  BMC Ophthalmol       Date:  2020-02-24       Impact factor: 2.209
  5 in total

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