Of all live births with congenital anomalies, approximately one-third exhibit deformities of the head and face. Most craniofacial disorders are associated with defects in a migratory stem and progenitor cell population, which is designated the neural crest (NC). Musculocontractural Ehlers-Danlos syndrome (MCEDS) is a heritable connective tissue disorder with distinct craniofacial features. … We conclude that NC defects in the EMT and cell migration may account for the craniofacial anomalies and other congenital malformations in MCEDS, which may facilitate the diagnosis and development of therapies for this distressing condition.
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