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A Century of Laffer-Ascher Syndrome
Parveen Rewri1, Swapnil Garg2, Rajender Kumar2
1Department of Ophthalmology, Maharaja Agrasen Medical College, Agroha (Hisar), Haryana, India.
Summary
Laffer-Ascher syndrome presents with double lips and eyelid swelling (blepharochalasis). Thyroid enlargement is an inconsistent feature in this rare genetic disorder.
Area of Science:
- Ophthalmology
- Endocrinology
- Genetics
Background:
- Laffer-Ascher syndrome is a rare disorder first described in 1923.
- It is characterized by a triad of double lips, blepharochalasis, and thyroid enlargement.
Observation:
- This report details a 46-year-old woman with characteristic double lips and blepharochalasis.
- The patient's presentation highlights the key features of the syndrome.
Findings:
- Review of literature indicates that thyroid involvement is the least consistent feature.
- The syndrome's presentation can vary, particularly regarding the thyroid component.
Implications:
- Understanding the variable expressivity of Laffer-Ascher syndrome is crucial for accurate diagnosis.
- Further case reports can help delineate the full spectrum of this rare condition.
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