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


Autoria(s): Oliveira, Camila Ive Ferreira; Filho, Guaracy Carvalho; Souza, Antonio Soares; Fett-Conte, Agnes Cristina
Contribuinte(s)

Universidade Estadual Paulista (UNESP)

Data(s)

27/05/2014

27/05/2014

01/12/2011

Resumo

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.

Formato

189-194

Identificador

http://www.amjcaserep.com/abstract/index/idArt/882136

American Journal of Case Reports, v. 12, p. 189-194.

1941-5923

http://hdl.handle.net/11449/72878

10.12659/AJCR.882136

2-s2.0-84855368546

2-s2.0-84855368546.pdf

Idioma(s)

eng

Relação

American Journal of Case Reports

Direitos

closedAccess

Palavras-Chave #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
Tipo

info:eu-repo/semantics/article