The craniofacial abnormalities include tracheomalacia, midface hypoplasia, cleft palate, early onset myopia, retinal detachment, prominent eyes, and sensorineural hearing
Kniest dysplasia is a type II collagen disorder that arises from a genetic mutation of the COL2A1 gene that results in short stature, midface anomalies, tracheomalacia, and
Tracheomalacia in a neonate with Kniest dysplasia: histopathologic and ultrastructural features. Ultrastruct Pathol 25:79–83, 2001. CrossRef PubMed Google Scholar 7.