SMN2‐deletion in childhood‐onset spinal muscular atrophy

We report a 27‐year‐old man with an apparently new syndromic form of progressive erosive arthropathy and contractures of small and large joints associated with mild epiphyseal changes, normal vertebrae, and generalized osteopenia. The patient had a characteristic craniofacial appearance, dermatological abnormalities, and normal intelligence. The head was large with frontal bossing. The face was elongated with malar hypoplasia, thin upper lip, prominent lower jaw, high arched palate, dental malocclusion, and prominent ears with absent ear lobules. Dermatological abnormalities included malar erythema and facial telangiectasia together with multiple nevi and lentigenes all over the body. Pseudorheumatoid arthropathy, spondyloarthropathy, and Borrone dermatocardioskeletal syndrome were considered in the differential diagnosis and were excluded. Also, no similar cases have been found in POSSUM or the London Dysmorphology databases. © 2001 Wiley‐Liss, Inc.