| Literature DB >> 6622139 |
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.Entities:
Mesh:
Year: 1983 PMID: 6622139
Source DB: PubMed Journal: Pediatrie ISSN: 0031-4021