Severe Skew Foot Deformity Discussion In 1938, Freeman and Sheldon [1] described a syndrome characterized by microstomia, ﬂat mid-face, talipes equin- ovarus, and ulnar deviation of the ﬁngers. Burian [4] de- scribed the same complex, utilizing the term “Whistling face syndrome”. Although most cases have been sporadic, there are several examples of the disorder in two or more gen- erations. The condition has also been described in sibs with normal, in some cases, consanguineous parents. Hall et al [7] found approximately 15% of patients with FSS had limited movement of the hips and 5% limitation of movement at the elbow (dislocation of the radial heads has been described). Vanek et al [8] presented evidence that FSS should be considered a form of myopathic arthrogry- posis. Krakowiak et al [9] reported a large family with dis- tal arthrogryposis, but with a distinctive facial appearance that they felt resembled Freeman-Sheldon syndrome. This was characterised by a triangular face, prominent nasolabial folds, downslanting palpebral ﬁssures, a small mouth, and a prominent chin. Skew foot deformity has not been described in any of the above mentioned reports. Ng et al [10] showed that candidate genes for Mendelian disorders can be identiﬁed by exome sequencing of a small number of unrelated, affected individuals. Based on the 4 pa- tients, they were able to identify the MYH3 gene as the only candidate gene. With 3 affected individuals, they narrowed the candidates to 2 possible genes. These results suggested that targeted capture and massively parallel sequencing of exomes will be a powerful tool to identify the genetic cause of rare Mendelian disorders. Four clinical types of skewfoot have been considered; congenital, neurogenic, iatrogenic and idiopathic. Con- genital skewfoot associated with syndromic entities such as Larsen syndrome, diastrophic dysplasia, Proteus syndrome and osteogenesis imperfecta are characterized by being very rigid and not corrected by nonoperative measures [11]. Conclusions Skew foot is a rare condition that is often missed early in a child’s development. Mild and ﬂexible forms can be success- fully treated with cast immobilization and shoe therapy. In more severe forms, surgical intervention is indicated if there are underlying neuromuscular conditions or the individual is affected on a daily basis because of the deformity. Care- ful evaluation and proper surgical procedures selection can realign the foot, resulting in favourable long-term outcomes. J Clin Med Res • 2011;3(5):265-267 Finally we wish to stress that, skew foot is a condition that resembles metatarsus adductus but the elements of adductus of the forefoot and valgus of the hindfoot are more severe and rigid. In addition, there is lateral subluxation of the na- vicular on the talus. Skew foot is also called the S-shaped foot, the serpentine foot, or the Z-foot. A similar deformity is sometimes seen in a clubfoot that has undergone inadequate midfoot release and excessive hindfoot release. References 1. Freeman EA, Sheldon JH. Cranio-carpo-tarsal dystro- phy. Arch Dis Child. 1938;13(75):277-283. 2. Carakushansky G, Paiva IS, Kahn E, Ribeiro MG. [Re- cessive type of Freeman-Sheldon syndrome - report of two affected siblings]. J Pediatr (Rio J). 2001;77(5):425- 430. 3. Fitzsimmons JS, Zaldua V, Chrispin AR. Genetic hetero- geneity in the Freeman-Sheldon syndrome: two adults with probable autosomal recessive inheritance. J Med Genet. 1984;21(5):364-368. 4. Burian F. The “whistling face” characteristic in a com- pound cranio-facio-corporal syndrome. Br J Plast Surg. 1963;16(140-143. 5. Schrander-Stumpel C, Fryns JP, Beemer FA, Rive FA. Association of distal arthrogryposis, mental retarda- tion, whistling face, and Pierre Robin sequence: evi- dence for nosologic heterogeneity. Am J Med Genet. 1991;38(4):557-561. 6. Kite JH. Congenital metatarsus varus. J Bone Joint Surg Am. 1967;49(2):388-397. 7. Hall JG, Reed SD, Greene G. The distal arthrogryposes: delineation of new entities--review and nosologic dis- cussion. Am J Med Genet. 1982;11(2):185-239. 8. Vanek J, Janda J, Amblerova V, Losan F. Freeman-Shel- don syndrome: a disorder of congenital myopathic ori- gin? J Med Genet. 1986;23(3):231-236. 9. Krakowiak PA, Bohnsack JF, Carey JC, Bamshad M. Clinical analysis of a variant of Freeman-Sheldon syn- drome (DA2B). Am J Med Genet. 1998;76(1):93-98. 10. Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, Lee C, Shaffer T, et al. Targeted capture and mas- sively parallel sequencing of 12 human exomes. Nature. 2009;461(7261):272-276. 11. Napiontek M. Skewfoot. J Pediatr Orthop. 2002;22(1):130-133. Articles © The authors | Journal compilation © J Clin Med Res and Elmer Press™ | www.jocmr.org 267