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A Síndrome de Pfeiffer é uma doença genética complexa relacionada à cranioestenose. Nem sempre o diagnóstico dessa malformação pode ser realizado no período do pré-natal, o que sem dúvidas, deixa os pais das crianças acometidas com ainda mais receio e dúvidas sobre essa cranioestenose sindrômica. Síndrome de Pfeiffer pode ser confundida com a Síndrome de Crouzon e conseguimos distinguir entre as duas síndromes devido às alterações nas mãos.
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