Publicação: SED-brachydactyly and distinctive speech: Report of a new familial case
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Background: 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.
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Fantasy island syndrome, SED-BDS, Tattoo dysplasia, adolescent, body size, bone disease, bone growth, brachydactyly, brachymetacarpy, brachymetatarsalia, Brazilian, case report, epiphysis, ethnic group, familial disease, foot, genetic disorder, growth retardation, hand, human, hypoplastic iliac wings, limb, long bone, lumbar hyperlordosis, male, ossification, osteopenia, physical examination, scoliosis, short stature, spondyloepiphyseal dysplasia brachydactyl and distinctive speech, vertebra malformation
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Inglês
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American Journal of Case Reports, v. 12, p. 189-194.
