Whistling face (Freeman-Sheldon) syndrome in two siblings.
Two siblings with typical manifestations of whistling face (Freeman-Sheldon) syndrome (WFS) born to unaffected parents are presented. In Case 1, deep-set eyes, epicanthus, blepharophimosis, right lid ptosis, strabismus, anti mongoloid slant, small mouth, mask-like face, high-arched palate, nasal speech, dysphagia, kyphosis and minimal scoliosis were noted, while Case 2 displayed blepharophimosis, mask-like face, long philtrum, high-arched palate, scoliosis, bilateral post-axial polydactyly of the feet and pes varus. We corrected the blepharophimosis in Case 1 by bilateral canthotomy and canthoplasty. This syndrome is usually inherited as an autosomal dominant trait; however, some authors have reported an autosomal an autosomal recessive form of this syndrome similar to our cases. Nevertheless, this could be explained by genetic expression of the mutant gene.
Bekir
N
N
Department of Ophthalmology, Gaziantep University Faculty of Medicine, Turkey.
Bayraktaroğlu
Z
Z
Coşkun
Y
Y
Karaaslan
C
C
D002648:Child; D002675:Child, Preschool; D003394:Craniofacial Dysostosis / Q000235:genetics*; D005145:Face / Q000002:abnormalities; D005260:Female; D006801:Humans; D008297:Male; D013577:Syndrome