Spondylo-meta-epiphyseal dysplasia, short limbs, abnormal calcification type: a new case with severe neurological
V Fano1, H Lejarraga, C Barreiro
1Service of Growth and Development, Hospital Garrahan, Buenos Aires, Argentina. vfano@intramed.net.ar
Pediatric Radiology
|February 24, 2001
Abstract:
A case of an affected girl with spondylo-meta-epiphyseal dysplasia (SMED) is reported. The disease was detected at birth as a congenital dysplasia with generalized lesions. At 10 months of age, abnormal calcifications appeared in both wrists. The patient evolved with severe growth retardation and multiple neurological and respiratory complications, followed by death at 21 months of age.
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