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- W2134203471 abstract "Crianca de cinco anos, do sexo masculino, leu-coderma, natural e residente em Contagem, MG.Nasceu a termo, de gravidez sem intercorrencias, compeso e estatura adequados para a idade gestacional,de pais nao consanguineos. Historia familiar negativapara anomalias congenitas ou doencas geneticas.Os pais relataram que, desde o nascimento, opaciente apresentava no dorso das maos manchascujo tamanho aumentou com o passar do tempo eque, posteriormente, apareceram no tronco.Tambem apresentava rosto afinado e deformi-dades nas maos, torax e membros inferiores. Negaramfotossensibilidade, hematomas e ulceracoes nas areasexpostas.Ao exame fisico foram encontradas as seguintesalteracoes: pele: maculas hipocromicas e hipercromicasreticuladas e atroficas associadas a telangiectasias nodorso das maos e dos pes, nos joelhos, nos cotovelos,na face lateral do tronco e nos flancos bilateralmente; face: nariz de ponta afilada, discreto hiperte-lorismo, micrognatismo e desproporcao craniofacial; tronco: torax piriforme; membros: deformidade em flexao das articu-lacoes metacarpofalangeanas e geno valgo.Nao apresentava lesoes orais nem de pelos oude unhas. Peso, estatura e desenvolvimento neuropsi-comotor adequados para a idade.A biopsia de pele na regiao lateral E do troncomostrou ortoqueratose e epiderme sinuosa. A dermeestava levemente atrofica, com discreto infiltradoinflamatorio cronico perivascular superficial e vasosectasiados. Na coloracao para fibras elasticas, as mes-mas se mostraram diminuidas e fragmentadas.As radiografias simples mostraram varios tiposde alteracoes: desproporcao craniofacial, alargamentode suturas sagital, coronal e lambdoide; grau minimode micrognatismo, hipertelorismo e saliencia nasregioes parietotemporais; torax piriforme, adelgaca-mento de claviculas bilateralmente com porose de suaextremidade distal; leve alteracao do eixo anatomicofemorotibial com deformidade em valgo; absorcaodas falanges distais mais pronunciada nos dedos indi-cadores; lesoes focais liticas, multiplas, de paredes" @default.
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- W2134203471 date "2005-04-01" @default.
- W2134203471 modified "2023-09-24" @default.
- W2134203471 title "Você conhece esta síndrome? * Do you know this Syndrome *" @default.
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