title: A new syndrome of optic nerve colobomas and renal abnormalities associated with arthrogryposis multiplex.
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.
authors.affiliation: Department of Paediatrics, FMHS, Al Ain Hospital, United Arab Emirates. algazali@hotmail.com
authors.forename: L I
authors.initials: LI
authors.lastname: Al-Gazali
authors.forename: M
authors.initials: M
authors.lastname: Bakir
authors.forename: Z M
authors.initials: ZM
authors.lastname: Hamid
authors.forename: D K
authors.initials: DK
authors.lastname: Nair
authors.forename: D
authors.initials: D
authors.lastname: Haas
authors.forename: I
authors.initials: I
authors.lastname: Amirlak
authors.forename: A
authors.initials: A
authors.lastname: Rushdi
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001176:Arthrogryposis / Q000473:pathology*; D003103:Coloboma / Q000000981:diagnostic imaging / Q000473:pathology*; D019066:Facies; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D008297:Male; D009900:Optic Nerve / Q000000981:diagnostic imaging / Q000473:pathology*; D010375:Pedigree; D013577:Syndrome; D014057:Tomography, X-Ray Computed