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A new case of acro-renal-ocular (radio-renal-ocular) syndrome with cleft palate and costo-vertebral defects? A brief clinical report.

par Pierquin, G;Hall, Michelle ;Vanhelleputte, Corinne ;Van Regemorter, Nicole
Référence Ophthalmic paediatrics and genetics, 12, 4, page (183-186)
Publication Publié, 1991-12

Article révisé par les pairs

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Résumé :

The authors describe a girl with retarded growth, renal malformations, retinal coloboma and hypoplasia of the thumbs like reported in the acro-renal-ocular syndrome. In addition, they found defects of the ribs and spine and cleft palate, not previously described in this syndrome. The was noted to have minor anomalies of the hands, which might represent a mild manifestation of this autosomal dominant syndrome.