Brachyolmia, Maroteaux type

Definition

A rare brachyolmia characterized by short stature with a high upper-to-lower segment ratio and relatively long arms. Mild scoliosis is typically present. Radiographically, it is distinct from other types of brachyolmia, showing rounded anterior and posterior vertebral margins and variable intervertebral space widths (narrowed or broadened). Some patients also exhibit precocious ossification of the falx cerebri, metaphyseal irregularities, and small epiphyses of the proximal femora. Additional clinical features may include widely spaced nipples, clinodactyly, hypoplastic nails, pectus excavatum, joint hyperlaxity, subtle facial dysmorphism (such as a flat nose and thick lips), and mild intellectual disability. There have been no further descriptions in the literature since 1989.