Literature DB >> 6622139

[Coffin-Siris syndrome. Critical study of the literature apropos of a case].

M F Foasso, M Hermier, B Descos, J P Collet, F Perron.   

Abstract

The authors report a case of the Coffin Siris syndrome which associates a ungueo-digital syndrome (special by the bilateral aplasia or severe hypoplasia of nails and third phalanx of fifth toes and fingers) to other anomalies: facies with thinly fine hairs contrasting with bushy and dense eyebrows and body hypertrichosis, hypotonia and mental retardation. The connections of the Coffin Siris syndrome with the trisomy 9 p+ syndrome and the fetal hydantoïn syndrome are discussed.

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Year:  1983        PMID: 6622139

Source DB:  PubMed          Journal:  Pediatrie        ISSN: 0031-4021


  2 in total

Review 1.  Coffin-Siris syndrome.

Authors:  P Levy; M Baraitser
Journal:  J Med Genet       Date:  1991-05       Impact factor: 6.318

2.  Partial biotinidase deficiency associated with Coffin-Siris syndrome.

Authors:  A B Burlina; W G Sherwood; F Zacchello
Journal:  Eur J Pediatr       Date:  1990-06       Impact factor: 3.183

  2 in total

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