ISSN 1941-5923

Logo



Get your full text copy in PDF

SED-brachydactyly and distinctive speech: Report of a new familial cas

Camila Ive Ferreira Oliveira, Guaracy Carvalho Filho, Antonio Soares Souza, Agnes Cristina Fett-Conte

Am J Case Rep 2011; 12:189-194

DOI: 10.12659/AJCR.882136


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 brachyphalangia 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 findings included shape anomalies of the vertebral bodies such as cuboid-shaped vertebral bodies, mild scoliosis, short and broad tubular bones, brachymetacarpalia, brachymetatarsalia, and brachydactyly, 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.

This paper has been published under Creative Common Attribution-NonCommercial-NoDerivatives 4.0 International (CC BY-NC-ND 4.0) allowing to download articles and share them with others as long as they credit the authors and the publisher, but without permission to change them in any way or use them commercially.
I agree