[Coffin-Siris syndrome. Critical study of the literature apropos of a case].
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.
D000015:Abnormalities, Multiple; D005145:Face / Q000002:abnormalities; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008607:Intellectual Disability / Q000150:complications*; D009264:Nails, Malformed; D013577:Syndrome; D014034:Toes / Q000002:abnormalities
Le syndrome de Coffin Siris. Etude critique de la littérature à propos d'un cas.