wrinkled palms Atrophy of the thenar muscles, and tapering fingers Hypermobility of distal joints Characteristic radiologic findings Minimal criteria suggestive for spondylodysplastic
[wikimsk.org]
wrinkled palms short stature (progressive in childhood), bowing of limbs, pes planus, osteopenia, (characteristic X-ray findings of) skeletal dysplasia, JH B4GALT7: radioulnar
[mdpi.com]
[…] multiple spontaneous fractures Ascending aortic aneurysm Lung hypoplasia, restrictive lung Gene specific criteria (SLC39A13) Protuberant eyes with bluish sclerae Hands with finely
[wikimsk.org]