Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.

@article{Winters2012ReassignedDO,
  title={Re-assigned diagnosis of D4ST1-deficient Ehlers-Danlos syndrome (adducted thumb-clubfoot syndrome) after initial diagnosis of Marden-Walker syndrome.},
  author={Kevin A Winters and Zhijie Jiang and Weihong Xu and Shibo Li and Zineb Ammous and Parul Jayakar and Klaas J Wierenga},
  journal={American journal of medical genetics. Part A},
  year={2012},
  volume={158A 11},
  pages={2935-40}
}
We report on a 16-year-old female originally diagnosed with Marden-Walker syndrome due to features such as facial dysmorphism, several musculoskeletal anomalies, and atrial septal defect in addition to hypoplasia of the inferior vermis with normal-sized cerebellum and absence of the septum pellucidum. However, an SNP array performed at age 15 years detected a total of 142 Mb of long runs of homozygosity (ROH), and put the diagnosis in doubt. Using the Genomic Oligoarray and SNP array evaluation… CONTINUE READING

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MardenWalker syndrome versus isolated distal arthrogryposis: Evidence that both conditions may be variable manifestations of the same mutated gene

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  • 1998
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