Sindrome de Langer-Giedion

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Síndrome de Langer-Giedion
Definición: Autosomal dominant disorder characterized by cone-shaped epiphyses in the hands and multiple cartilaginous exostoses.
Mental retardation and abnormalities of chromosome 8 are often present.
The exostoses in this syndrome appear identical to those of hereditary multiple exostoses (EXOSTOSES, HEREDITARY MULTIPLE).
Sinónimos: Acrodisplasia V / Síndrome Tricorrinofalangiano Tipo II / Síndrome de Giedion-Langer /

Vea relacionado:
Exostosis Múltiple Hereditaria