Freeman-sheldon syndrome (cranio-carpo-tarsal dysplasia; whistling face syndrome) 4

General: Rare; autosomal dominant and recessive inheritance as well as sporadic cases (genetic heterog 313h78d eneity).

Ocular: Eyes deeply sunken (enophthalmos); hypertelorism; blepharophimosis; ptosis; antimongoloid slanting of lid fissures; esotropia.

Clinical: Small nose with narrow nostrils and long philtrum; alae nasi often bent, simulating colobomas; nasolabial folds present only near the nose; microstomia; high-arched palate and small mandible; flexion contractures of fingers; excessive bulging of central part of cheeks when whistling.

Freeman EA, Sheldon JH. Cranio-carpotarsal dystrophy: an undescribed congenital malformation. Arch Dis Child 1938; 13:277.

McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.

Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.

O'Keefe M, et al. Ocular abnormalities in the Freeman-Sheldon syndrome. Am J Ophthalmol 1986; 102:346-348.

Wang TR, Lin SJ. Further evidence for genetic heterogeneity of whistling face or Freeman-Sheldon syndrome in a Chinese family. Am J Genet 1987; 28:471-475.

Weinstein S, Gorlin RJ. Cranio-carpotarsal dystrophy or the whistling face syndrome. Am J Dis Child 1969; 117:427.