B3GALT6-ассоциированный спондилодиспластический синдром Элерса-Данло

A rare subtype of spondylodysplastic Ehlers-Danlos syndrome characterized by short stature, variable degrees of muscle hypotonia, and bowing of limbs. Additional features include characteristic radiographic findings (like platyspondyly, anterior beak of vertebral body, short ilia, metaphyseal flaring, and generalized osteoporosis), skin hyperextensibility, soft and doughy skin, thin translucent skin, delayed motor and/or cognitive development, kyphoscoliosis, joint hypermobility (generalized or restricted to distal joints), characteristic craniofacial features (like midfacial hypoplasia, blue sclerae, frontal bossing, depressed nasal bridge, low̼set ears, micrognathia, abnormal dentition), joint contractures, ascending aortic aneurysm, and lung hypoplasia, among others. Molecular testing is obligatory to confirm the diagnosis.