Literature DB >> 10457849

A new syndrome comprising vertebral anomalies and multicystic kidneys.

D L Nisbet1, L S Chitty, C H Rodeck, R J Scott.   

Abstract

We report a dichorionic twin pregnancy in which both fetuses were affected by a similar pattern of multiple abnormalities. The afrocaribbean parents had a history of infertility, and the pregnancy was conceived using in vitro fertilisation with donor sperm. The features seen in the fetuses do not fit any previously described disorder well. We discuss the differential diagnoses and suggest that this may be an autosomal recessive disorder which has not been previously described.

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Year:  1999        PMID: 10457849

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


  3 in total

1.  A novel form of ischio-vertebral syndrome.

Authors:  Ali Al Kaissi; Ali Al Kassi; Farid Ben Chehida; Anna Latos-Bielenska; Hassan Gharbi; Maher Ben Ghachem; Lofti Hendaoui; Kazimierz Kozlowski
Journal:  Skeletal Radiol       Date:  2006-03-18       Impact factor: 2.199

2.  Development of anaplastic Wilms tumor and subsequent relapse in a child with diaphanospondylodysostosis.

Authors:  Sarah K Tasian; Grace E Kim; Douglas N Miniati; Steven G DuBois
Journal:  J Pediatr Hematol Oncol       Date:  2012-10       Impact factor: 1.289

3.  Extending the phenotype of BMPER-related skeletal dysplasias to ischiospinal dysostosis.

Authors:  Ekaterina Kuchinskaya; Giedre Grigelioniene; Anna Hammarsjö; Hye-Ran Lee; Lotta Högberg; Gintautas Grigelionis; Ok-Hwa Kim; Gen Nishimura; Tae-Joon Cho
Journal:  Orphanet J Rare Dis       Date:  2016-01-04       Impact factor: 4.123

  3 in total

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