Opsismodysplasia

Definition

A rare skeletal dysplasia characterized by pre-or postnatal severe rhizomelic micromelia with short long bones (congenital dwarfism), extremely short feet and hands, major delay in skeletal ossification, metaphyseal cupping, severe platyspondyly, muscular hypotonia and facial dysmorphism (including macrocephaly, large anterior fontanelle, arched and prominent eyebrows, hypertelorism, exophthalmos, depressed nasal bridge, small anteverted nose with relatively broad nares, long philtrum and thin upper lip). Patients also present with short neck, narrow, bell-shaped thorax. Circumferential skin creases (especially in the upper arms, hands, and feet) and recurrent respiratory tract infections (that followed a fatal course in some cases) have also been reported.