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Axenfeld-Rieger spectrum in a patient with 45,X Turner syndrome.
Ophthalmic Genet. 2012 Jun; 33(2):111-5.OG

Abstract

PURPOSE

To report the presence of Axenfeld-Rieger spectrum in a case of 45,X Turner syndrome.

DESIGN

Non-interventional case report.

METHODS

A 13-year-old girl underwent complete genetic clinical evaluation comprising detailed family history taking with pedigree construction in addition to a thorough clinical examination and a number of investigations. A cytogenetic study, molecular testing for hidden Y-chromosome material, and a full ophthalmological assessment including slit lamp examination were also performed.

RESULTS

Physical examination revealed typical features of Turner syndrome: short stature, webbing of the neck with low posterior hairline, widely spaced nipples and lack of development of secondary sexual characteristics. Abdominal and pelvic ultrasound showed a horse-shoe kidney with double ureter, a hypoplastic uterus and bilateral streak ovaries. Mitral regurgitation was diagnosed on echocardiography. Chromosomal analysis revealed a 45,X Turner syndrome karyotype while the molecular study failed to demonstrate any occult Y chromosome derivative. The ophthalmological assessment revealed sclerocornea and Axenfeld anomaly with synechia.

CONCLUSION

Few reported cases in the literature describe the coexistence of Axenfeld-Rieger spectrum and Turner syndrome. Our study adds to the evidence that ocular problems occur frequently in Turner syndrome. A routine ophthalmologic examination is recommended early in Turner syndrome to diagnose and treat confirmed abnormalities. Conversely, general examination and chromosomal analysis should be indicated in patients presenting with anterior chamber dysgenesis.

Authors+Show Affiliations

Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt. drebtesamabdalla@yahoo.comNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

22229795

Citation

Abdalla, Ebtesam Mohamed, and Karim Mahmoud Nabil. "Axenfeld-Rieger Spectrum in a Patient With 45,X Turner Syndrome." Ophthalmic Genetics, vol. 33, no. 2, 2012, pp. 111-5.
Abdalla EM, Nabil KM. Axenfeld-Rieger spectrum in a patient with 45,X Turner syndrome. Ophthalmic Genet. 2012;33(2):111-5.
Abdalla, E. M., & Nabil, K. M. (2012). Axenfeld-Rieger spectrum in a patient with 45,X Turner syndrome. Ophthalmic Genetics, 33(2), 111-5. https://doi.org/10.3109/13816810.2011.634880
Abdalla EM, Nabil KM. Axenfeld-Rieger Spectrum in a Patient With 45,X Turner Syndrome. Ophthalmic Genet. 2012;33(2):111-5. PubMed PMID: 22229795.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Axenfeld-Rieger spectrum in a patient with 45,X Turner syndrome. AU - Abdalla,Ebtesam Mohamed, AU - Nabil,Karim Mahmoud, Y1 - 2012/01/09/ PY - 2012/1/11/entrez PY - 2012/1/11/pubmed PY - 2012/9/27/medline SP - 111 EP - 5 JF - Ophthalmic genetics JO - Ophthalmic Genet VL - 33 IS - 2 N2 - PURPOSE: To report the presence of Axenfeld-Rieger spectrum in a case of 45,X Turner syndrome. DESIGN: Non-interventional case report. METHODS: A 13-year-old girl underwent complete genetic clinical evaluation comprising detailed family history taking with pedigree construction in addition to a thorough clinical examination and a number of investigations. A cytogenetic study, molecular testing for hidden Y-chromosome material, and a full ophthalmological assessment including slit lamp examination were also performed. RESULTS: Physical examination revealed typical features of Turner syndrome: short stature, webbing of the neck with low posterior hairline, widely spaced nipples and lack of development of secondary sexual characteristics. Abdominal and pelvic ultrasound showed a horse-shoe kidney with double ureter, a hypoplastic uterus and bilateral streak ovaries. Mitral regurgitation was diagnosed on echocardiography. Chromosomal analysis revealed a 45,X Turner syndrome karyotype while the molecular study failed to demonstrate any occult Y chromosome derivative. The ophthalmological assessment revealed sclerocornea and Axenfeld anomaly with synechia. CONCLUSION: Few reported cases in the literature describe the coexistence of Axenfeld-Rieger spectrum and Turner syndrome. Our study adds to the evidence that ocular problems occur frequently in Turner syndrome. A routine ophthalmologic examination is recommended early in Turner syndrome to diagnose and treat confirmed abnormalities. Conversely, general examination and chromosomal analysis should be indicated in patients presenting with anterior chamber dysgenesis. SN - 1744-5094 UR - https://www.unboundmedicine.com/medline/citation/22229795/Axenfeld_Rieger_spectrum_in_a_patient_with_45X_Turner_syndrome_ L2 - https://www.tandfonline.com/doi/full/10.3109/13816810.2011.634880 DB - PRIME DP - Unbound Medicine ER -