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. |
2. |
Aalfs CM et al. (1996) Further delineation of the acro-renal-ocular syndrome. |
3. |
Halal F et al. (1984) Acro-renal-ocular syndrome: autosomal dominant thumb hypoplasia, renal ectopia, and eye defect. |
4. |
Ferrell RL et al. (1966) Simultaneous occurrence of the Holt-Oram and the Duane syndromes. |
5. |
Hayes A et al. (1985) The Okihiro syndrome of Duane anomaly, radial ray abnormalities, and deafness. |
6. |
None (1986) The DR syndrome or the Okihiro syndrome? |
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. |
9. |
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. |
10. |
Parentin F et al. (2003) Solitary median maxillary central incisor, Duane retraction syndrome, growth hormone deficiency and duplicated thumb phalanx: a case report. |
12. |
Brassington AM et al. (2003) Expressivity of Holt-Oram syndrome is not predicted by TBX5 genotype. |
13. |
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. |
14. |
Kohlhase J et al. (2002) Okihiro syndrome is caused by SALL4 mutations. |
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. |
16. |
MacDermot KD et al. (1987) Radial ray defect and Duane anomaly: report of a family with autosomal dominant transmission. |
17. |
Naito T et al. (1989) Nature of renal involvement in the acro-renal-ocular syndrome. |
18. |
Orphanet article Orphanet ID 959 |
19. |
OMIM.ORG article Omim 607323 |
20. |
Wikipedia article Wikipedia EN (Duane-radial_ray_syndrome) |