Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Acro-renal-ocular syndrome is an autosomal dominant disorder caused by mutations of the SALL4. Malformations include the radial ray, urogenital system (malrotation, ectopia, horseshoe kidney, hypoplasia, vesico-ureteral reflux, bladder diverticula), and eyes (colobomas, microphthalmia, ptosis, and Duane anomaly).
| 1. |
Okihiro MM et al. (1977) Duane syndrome and congenital upper-limb anomalies. A familial occurrence. 
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| 2. |
Aalfs CM et al. (1996) Further delineation of the acro-renal-ocular syndrome.
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| 3. |
Halal F et al. (1984) Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect.
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| 4. |
Ferrell RL et al. (1966) Simultaneous occurrence of the Holt-Oram and the Duane syndromes.
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| 5. |
Hayes A et al. (1985) The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness.
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| 6. |
None (1986) The DR syndrome or the Okihiro syndrome?
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| 7. |
Pierquin G et al. (1991) A new case of acro-renal-ocular (radio-renal-ocular) syndrome with cleft palate and costo-vertebral defects? A brief clinical report.
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| 8. |
Miertus J et al. (2006) A SALL4 zinc finger missense mutation predicted to result in increased DNA binding affinity is associated with cranial midline defects and mild features of Okihiro syndrome.
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Borozdin W et al. (2004) SALL4 deletions are a common cause of Okihiro and acro-renal-ocular syndromes and confirm haploinsufficiency as the pathogenic mechanism.
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| 10. |
Parentin F et al. (2003) Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report.
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Kohlhase J et al. (2003) Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy.
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| 12. |
Brassington AM et al. (2003) Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype.
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Al-Baradie R et al. (2002) Duane radial ray syndrome (Okihiro syndrome) maps to 20q13 and results from mutations in SALL4, a new member of the SAL family.
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| 14. |
Kohlhase J et al. (2002) Okihiro syndrome is caused by SALL4 mutations.
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| 15. |
Becker K et al. (2002) Okihiro syndrome and acro-renal-ocular syndrome: clinical overlap, expansion of the phenotype, and absence of PAX2 mutations in two new families.
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| 16. |
MacDermot KD et al. (1987) Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission.
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| 17. |
Naito T et al. (1989) Nature of renal involvement in the acro-renal-ocular syndrome.
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| 18. |
Orphanet article Orphanet ID 959
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OMIM.ORG article Omim 607323
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| 20. |
Wikipedia article Wikipedia EN (Duane-radial_ray_syndrome)
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