Coffin-Siris syndrome. Critical study of the literature apropos of a case
Foasso, M.F.; Hermier, M.; Descos, B.; Collet, J.P.; Perron, F.
Pediatrie 38(2): 111-117
1983
ISSN/ISBN: 0031-4021 PMID: 6622139 Document Number: 209149
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.