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  • Title: A new syndrome of optic nerve colobomas and renal abnormalities associated with arthrogryposis multiplex.
    Author: Al-Gazali LI, Bakir M, Hamid ZM, Nair DK, Haas D, Amirlak I, Rushdi A.
    Journal: Clin Dysmorphol; 2000 Jul; 9(3):183-8. PubMed ID: 10955478.
    Abstract:
    Renal-coloboma syndrome is a developmental disorder involving optic nerve colobomas and renal hypoplasia/insufficiency, which exhibits autosomal dominant inheritance and a highly variable phenotype (OMIM:120330). Mutation in the PAX2 gene was found to result in the renal-coloboma phenotype. We report on an Arab family with autosomal dominant inheritance of a syndrome characterized by a variable combination of optic nerve colobomas, renal abnormalities, vesicoureteral reflux, lax joints and arthrogryposis multiplex. Apart from the arthrogryposis multiplex which has not been described in the renal-coloboma syndrome, the features of the syndrome in this family are very similar to the renal-coloboma syndrome. However sequencing of all 12 axons of PAX2 gene revealed no mutation in this family. The disorder in this family is likely to represent a new syndrome with features overlapping with the renal-coloboma syndrome.
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