La Sindrome di Shprintzen-Goldberg è estremamente rara ed è caratterizzata da craniosinostosi, caratteristica facies dismorfica (ipertelorismo, micrognazia, orecchie ad impianto basso e ruotate posteriormente, palato ogivale) ed anomalie cardiovascolari.
E' sporadica ma in alcuni pazienti sono state identificate mutazioni del gene della fibrillina-1.
Bibliografia
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