Literature DB >> 16531740

Mild case of Curry-Jones syndrome.

Ellen R A Thomas1, Emma L Wakeling, Frances R Goodman, John C Dickinson, Christine M Hall, Angela F Brady.   

Abstract

The main features of the Curry-Jones syndrome are syndactyly, pre-axial polydactyly, craniosynostosis, absent corpus callosum, skin anomalies (characteristic pearly white areas that become scarred and atrophic, with increased hair growth), colobomas or microphthalmia and intestinal obstruction because of multiple benign myofibromata of the large bowel. Developmental delay occurs in half of the reported patients. The patient reported here has a mild form of the condition with polysyndactyly and skin changes but no craniosynostosis, bowel problems or developmental delay.

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Year:  2006        PMID: 16531740     DOI: 10.1097/01.mcd.0000194406.85052.de

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


  2 in total

1.  Gastrointestinal disorders in Curry-Jones syndrome: Clinical and molecular insights from an affected newborn.

Authors:  Kristen Wigby; Stephen R F Twigg; Ryan Broderick; Katherine P Davenport; Andrew O M Wilkie; Stephen W Bickler; Marilyn C Jones
Journal:  Am J Med Genet A       Date:  2017-04-06       Impact factor: 2.802

2.  A Recurrent Mosaic Mutation in SMO, Encoding the Hedgehog Signal Transducer Smoothened, Is the Major Cause of Curry-Jones Syndrome.

Authors:  Stephen R F Twigg; Robert B Hufnagel; Kerry A Miller; Yan Zhou; Simon J McGowan; John Taylor; Jude Craft; Jenny C Taylor; Stephanie L Santoro; Taosheng Huang; Robert J Hopkin; Angela F Brady; Jill Clayton-Smith; Carol L Clericuzio; Dorothy K Grange; Leopold Groesser; Christian Hafner; Denise Horn; I Karen Temple; William B Dobyns; Cynthia J Curry; Marilyn C Jones; Andrew O M Wilkie
Journal:  Am J Hum Genet       Date:  2016-05-26       Impact factor: 11.025

  2 in total

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