[MURCS association: a challenging diagnosis].
MURCS association includes Mullerrian duct aplasia-hypoplasia (MU), renal malformations (R) and cervicothoracic somite dysplasia (CS). This rare disease (1/50 000 females) is sporadic and of unknown aetiology. The reported case is the first one with additional esophageal atresia and ovarian mature teratoma. Esophageal atresia first led to the diagnosis of VACTERL association, which is more frequent and well known, showing that the identification of such malformative association may be challenging. The presence of mullerrian abnormality has allowed the diagnosis of MURCS association, as there is no mullerrian hypoplasia in VACTERL association. Therefore the association of isolated or combined renal and cervical malformation with VACTERL features should lead to the search for mullerrian abnormalities.
Vergnes
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Département de pédiatrie, hôpital Edouard-Herriot, 69437 Lyon cedex 03, France.
Cordier
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Dubois
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Bouvier
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Cochat
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D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001848:Bone Diseases, Developmental / Q000150:complications / Q000175:diagnosis*; D004933:Esophageal Atresia / Q000150:complications; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D009095:Mullerian Ducts / Q000002:abnormalities*; D010051:Ovarian Neoplasms / Q000150:complications; D013724:Teratoma / Q000150:complications