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Sporadic Duane's Retraction Syndrome Associated with Imperforate Anus: Case Report
P E Bianchi1, C Barone, A M Bezzina
1Department of Ophthalmology, University of Pavia and I.R.C.C.S. S. Matteo Hospital, Pavia, Italy.
Strabismus
|February 15, 2011
Summary
Duane
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- Duane's retraction syndrome (DRS) is a congenital eye movement disorder.
- DRS can be associated with other congenital abnormalities.
- The co-occurrence of DRS with specific malformative syndromes is documented.
Purpose of the Study:
- To report a rare case of Duane's retraction syndrome (DRS).
- To investigate the association of DRS with rectoperineal fistula and imperforate anus.
- To review the literature for similar sporadic cases.
Main Methods:
- Clinical case presentation of a 7-year-old female.
- Literature review of 106 reports published before 1982.
- Medline search (1981-1994) for congenital malformations associated with DRS.
Main Results:
- The patient presented with DRS, rectoperineal fistula, imperforate anus, and other congenital malformations.
- No prior reports of sporadic DRS associated with these specific perineal malformations were found in the literature.
- Imperforate anus is a common hindgut malformation.
Conclusions:
- This case highlights a rare association between Duane's retraction syndrome and complex anorectal malformations.
- The findings suggest that this specific combination may be exceedingly rare or previously unreported.
- Further research is needed to understand the genetic and developmental links, if any.
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