V. Fano et al., Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological involvement, PEDIAT RAD, 31(1), 2001, pp. 19-22
A case of an affected girl with spondylo-meta-epiphyseal dysplasia (SMED) i
s reported. The disease was detected at birth as a congenital dysplasia wit
h generalized lesions. At 10 months of age, abnormal calcifications appeare
d in both wrists. The patient evolved with severe growth retardation and mu
ltiple neurological and respiratory complications, followed by death at 21
months of age.