Table 2.

Patient Evaluation Under Spondylodysplastic Ehlers-Danlos Syndrome Criteria

	Present patient (spEDS-B4GALT7)
Major criteria
Short stature	−
Muscle hypotonia	+
Bowing of limbs	+
Minor criteria
Hyperextensible, soft, doughy, and thin skin	+
Pes planus, equinovarus, or valgus	+
Delayed motor development	−
Low bone mass (osteopenia)	−
Delayed cognitive development	−
B4GALT7-specific minor criteria
Radioulnar synostosis	−
Bilateral elbow contractures	−
Generalized joint hypermobility	+
Single transverse palmar crease	−
Characteristic craniofacial features	−
Characteristic radiographic findings	−
Severe hypermetropia	−
Clouded cornea	−