Document Detail

Aarskog syndrome: a case report and literature review.
MedLine Citation:
PMID:  18577494     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Aarskog syndrome (facial-digital-genital syndrome) is an X-linked inherited disorder that causes multiple limb and genital abnormalities. Although ophthalmic manifestations are noted rarely, findings may include optic nerve hypoplasia, retinal vessel tortuosity, deficient ocular elevation, hyperopia, and anisometropia. CASE REPORT: An 8-year-old boy with Aarskog syndrome presented with complaints of letter reversals, letter additions, and an occasional "crooked" eye when he became frustrated or tired. He was currently enrolled in a special education program because of poor academics. The examination found anisometropic amblyopia, superior ophthalmoplegia, and high hyperopic astigmatism. Glasses were prescribed, and further binocular, accommodative and perceptual testing will be performed once adaptation has occurred. CONCLUSION: Knowledge of this rare condition can benefit the practitioner as well as the patient. An understanding of the associated conditions will aid and simplify the examination process. A search of the English-language literature is reported.
Marc B Taub; Allison Stanton
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Optometry (St. Louis, Mo.)     Volume:  79     ISSN:  1529-1839     ISO Abbreviation:  Optometry     Publication Date:  2008 Jul 
Date Detail:
Created Date:  2008-06-25     Completed Date:  2008-09-23     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  100912421     Medline TA:  Optometry     Country:  United States    
Other Details:
Languages:  eng     Pagination:  371-7     Citation Subset:  IM    
The Southern College of Optometry, Memphis, TN, USA.
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MeSH Terms
Abnormalities, Multiple*
Amblyopia / congenital*,  diagnosis
Astigmatism / congenital*,  diagnosis
Diagnosis, Differential
Facial Bones / abnormalities*
Genitalia, Male / abnormalities*
Hand Deformities, Congenital / diagnosis*
Ophthalmoplegia / congenital*,  diagnosis

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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