Dyssegmental dysplasia with glaucoma

Abstract

We report on a “new” syndrome in 2 unrelated children with some manifestations of Kniest dysplasia and with spine abnormalities suggestive of dyssegmental dysplasia. Glaucoma with important ocular impairment was associated with severe dwarfism. No mutation of the COL2A1 gene was detected. The inheritance of this new type of skeletal dysplasia is unknown. © 1996 Wiley‐Liss, Inc.

Developmental and childhood glaucoma

“…Such disorders include Kniest syndrome, 247,248,249,250 Michel syndrome, 251 and the oculodentodigital (ODD) syndrome. 252 The latter syndrome, an autosomal dominant disorder with phenotypic overlap with the HallermannStreiff and Meyer-Schwickerath syndromes, 253,254 also manifests with a variety of neurological findings.…”