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Whistling face (Freeman-Sheldon) syndrome in two siblings.
Turk J Pediatr 1994 Oct-Dec; 36(4):329-32TJ

Abstract

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.

Authors+Show Affiliations

Department of Ophthalmology, Gaziantep University Faculty of Medicine, Turkey.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

7825240

Citation

Bekir, N, et al. "Whistling Face (Freeman-Sheldon) Syndrome in Two Siblings." The Turkish Journal of Pediatrics, vol. 36, no. 4, 1994, pp. 329-32.
Bekir N, Bayraktaroğlu Z, Coşkun Y, et al. Whistling face (Freeman-Sheldon) syndrome in two siblings. Turk J Pediatr. 1994;36(4):329-32.
Bekir, N., Bayraktaroğlu, Z., Coşkun, Y., & Karaaslan, C. (1994). Whistling face (Freeman-Sheldon) syndrome in two siblings. The Turkish Journal of Pediatrics, 36(4), pp. 329-32.
Bekir N, et al. Whistling Face (Freeman-Sheldon) Syndrome in Two Siblings. Turk J Pediatr. 1994;36(4):329-32. PubMed PMID: 7825240.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Whistling face (Freeman-Sheldon) syndrome in two siblings. AU - Bekir,N, AU - Bayraktaroğlu,Z, AU - Coşkun,Y, AU - Karaaslan,C, PY - 1994/10/1/pubmed PY - 1994/10/1/medline PY - 1994/10/1/entrez SP - 329 EP - 32 JF - The Turkish journal of pediatrics JO - Turk. J. Pediatr. VL - 36 IS - 4 N2 - 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. SN - 0041-4301 UR - https://www.unboundmedicine.com/medline/citation/7825240/Whistling_face__Freeman_Sheldon__syndrome_in_two_siblings_ L2 - http://www.diseaseinfosearch.org/result/2921 DB - PRIME DP - Unbound Medicine ER -