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Whistling face (Freeman-Sheldon) syndrome in two siblings
N Bekir1, Z Bayraktaroğlu, Y Coşkun
1Department of Ophthalmology, Gaziantep University Faculty of Medicine, Turkey.
The Turkish Journal of Pediatrics
|October 1, 1994
Summary
Two siblings with whistling face (Freeman-Sheldon) syndrome (WFS) presented with atypical autosomal recessive inheritance patterns. Surgical correction of blepharophimosis was successful, suggesting varied genetic expressions in WFS.
Area of Science:
- Genetics
- Pediatrics
- Ophthalmology
Background:
- Whistling face (Freeman-Sheldon) syndrome (WFS) is typically inherited as an autosomal dominant trait.
- WFS presents with characteristic craniofacial abnormalities and limb malformations.
Observation:
- Two siblings born to unaffected parents exhibited typical WFS manifestations.
- Case 1 displayed deep-set eyes, blepharophimosis, ptosis, strabismus, and a mask-like face.
- Case 2 presented with blepharophimosis, a mask-like face, polydactyly, and pes varus.
Findings:
- Blepharophimosis was surgically corrected in Case 1 via canthotomy and canthoplasty.
- The siblings' presentation suggests a possible autosomal recessive form of WFS, contrasting with the usual dominant inheritance.
- Genetic expression of the mutant gene may explain these atypical inheritance patterns.
Implications:
- This case report expands the understanding of WFS inheritance patterns.
- It highlights the importance of considering genetic variability in WFS diagnosis and counseling.
- Surgical interventions like canthoplasty can effectively address specific WFS-related ophthalmic features.