Case Report Elmer ress J Clin Med Res • 2011;3(5):265-267 Severe Skew Foot Deformity in a Patient With Freeman-Sheldon Syndrome Ali Al Kaissia, b, c, Klaus Klaushofera, Franz Grillb developmental dislocation of the hip, occasional spina biﬁda occulta, asymmetric pinnae, mild petrygium coli, and pectus excavatum [4]. The clinical presentation may mimic that of distal arthrogryposis [5]. Rigid talipes equinovarus and ver- tical talus have been considered as the most frequent foot deformities in connection with (FSS). Skew foot is a condi- tion that resembles metatarsus adductus but the elements of adductus of the forefoot and valgus of the hindfoot are more severe and rigid [6]. A 3-year-old boy was referred to our department for clini- cal assessment. Growth has been retarded below the third percentile, the facial skeleton is small; facial characteristics include deep-sunken eyes with hypertelorism, increased philtrum length, small nose and nostrils, and a small mouth which is difﬁcult to open. The lips are in the “whistling posi- tion”. Highly arched palate, small tongue and a skin dimple Abstract We report on a 3-year-old boy with the full phenotypic features of Freeman Sheldon syndrome (FSS). Severe skew foot deformity has been recognized as additional skeletal abnormality. Parents were ﬁrst degree cousins, raising the possibility of autosomal recessive pattern of inheritance. To the best of our knowledge this is the ﬁrst report of severe skew foot deformity in a patient with (FSS). Keywords: Freeman-Sheldon syndrome; Skew foot deformity; Metatarsus adductus Case Report Introduction Craniocarpotarsal syndrome was ﬁrst described in 1938 by Freeman, an orthopaedic surgeon, and Sheldon, a paediatri- cian. Inheritance of FSS is usually sporadic, but both auto- somal dominant and autosomal recessive transmission have been reported [1-3]. FSS is characterized by a typical “whistling” facies con- sisting of a small, pursed mouth; long philtrum, small nose, deeply sunken eyes and scar like contracture that extends from the middle of the lower lip to the chin. In addition pa- tients exhibit ulnar deviation and thumb-in-palm deformity. Other associated anomalies are scoliosis and kyphoscoliosis, Manuscript accepted for publication August 4, 2011 aLudwig Boltzmann Institute of Osteology, Hanusch Hospital of WGKK and AUVA Trauma Centre Meidling, First Medical Department, Hanusch Hospital, Vienna, Austria bOrthopaedic Hospital of Speising, Paediatric Department, Vienna, Austria cCorresponding author: Ali Al Kaissi, Email: ali.alkaissi@osteologie.at doi:10.4021/jocmr653e Figure 1. Lateral skull radiograph showed signiﬁcant hyper- ostosis of the skull base associated with total sclerosis of the lambdoid sutures and partial sclerosis of the coronal sutures respectively. The anteroposterior length of both base and cra- nium are relatively shorter than that of the facial height. Articles © The authors | Journal compilation © J Clin Med Res and Elmer Press™ | www.jocmr.org 265