Short Stature Syndrome, Brussels Type

Clinical Features

Mievis et al. (1996) described a possibly distinct syndrome in 2 brothers born of nonconsanguineous healthy parents. The older brother exhibited short stature, slender trunk with a low chest circumference, relatively large head, triangular face, and retromicrognathia. At 10.5 years of age, his height was 104 cm. Roentgenographic studies showed delay in epiphyseal maturation, unusual form of metaphyses, and narrow thoracic cage. The second brother, who had similar manifestations and horseshoe kidney, died immediately after birth. Histologic analysis showed growth plates with thick and dense islets of calcified cartilage. Mievis et al. (1996) suggested that this complex is different from low birth weight syndromes, e.g., Russell-Silver syndrome (268650) and 3M syndrome (273750), and from other metaphyseal chondrodysplasias. Autosomal or X-linked recessive inheritance is possible.