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Síndrome de Langer-Giedion

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by

Pedro Henrique Brusnicki

on 20 November 2012

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Transcript of Síndrome de Langer-Giedion

Síndrome de Langer-Giedion Sintomas - Retardo mental;
- Baixa estatura;
- Dedos das mãos e pés curtos;
- Exostoses múltiplas;
- Perímetro Cefálico menor;
- Ouvidos grandes ou proeminentes;
- Olhos profundos e espaçados - Sombrancelhas largas;
- Pálpebra caída;
- Nariz arredondado;
- Lábio superior fino;
- Região plana entre o nariz e o
lábio superior;
- Dentes em menor quantidade;
- Mandíbula pequena;
- Couro cabeludo esparso. Alteração Genética - Deleção de genes contíguos (vizinhos);
- Perda das cópias funcionais dos genes
TRPS1 e EXT1;
- Cromossomo 8
Full transcript