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  • Title: [Coffin-Siris syndrome. Critical study of the literature apropos of a case].
    Author: Foasso MF, Hermier M, Descos B, Collet JP, Perron F.
    Journal: Pediatrie; 1983 Mar; 38(2):111-7. PubMed ID: 6622139.
    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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