Oliveira, Camila Ive Ferreira [UNESP]Filho, Guaracy CarvalhoSouza, Antonio SoaresFett-Conte, Agnes Cristina2014-05-272014-05-272011-12-01American Journal of Case Reports, v. 12, p. 189-194.1941-5923http://hdl.handle.net/11449/72878Background: Spondyloepiphyseal dysplasia-brachydactyly and distinctive speech (SED-BDS) is a syndrome characterized by short stature, disproportionately short limbs, peculiar face, thick and abundant hair, high-pitched and coarse voice, small epiphyses, brachymetacarpalia, brachymetatarsalia and brachy-phalangia of fingers and toes, small pelvis and delayed carpal bone age, among other features. Case Report: We report a Brazilian patient with father, brother and sister presenting with the same typical features of the syndrome. Clinically, he showed disproportionately short stature, rhizo-meso-acromelic shortness of the extremities, short hands and feet, a peculiar distinctive high-pitched voice, peculiar facies, and other features already reported as characteristic of this syndrome. Radiographic fndings included shape anomalies of the vertebral bodies such as cuboid-shaped vertebral bodies, mild scoliosis, short and broad tubular bones, brachymetacarpalia, brachymetatarsalia, and brachy-dactyly, lumbar hyperlordosis, generalized osteopenia, and hypoplastic iliac wings. Conclusions: Few cases have been described, as this is a rare skeletal dysplasia. This paper describes a new familial case of SED-BDS. © The American Journal of Case Reports.189-194engFantasy island syndromeSED-BDSTattoo dysplasiaadolescentbody sizebone diseasebone growthbrachydactylybrachymetacarpybrachymetatarsaliaBraziliancase reportepiphysisethnic groupfamilial diseasefootgenetic disordergrowth retardationhandhumanhypoplastic iliac wingslimblong bonelumbar hyperlordosismaleossificationosteopeniaphysical examinationscoliosisshort staturespondyloepiphyseal dysplasia brachydactyl and distinctive speechvertebra malformationArtigo10.12659/AJCR.882136Acesso restrito2-s2.0-848553685462-s2.0-84855368546.pdf5731856650217859