Spondylometaphyseal Dysplasia With Bowed Forearms And Facial Dysmorphism

Clinical Features

Kozlowski and Poon (2003) described a brother and sister with what they considered a novel form of spondylometaphyseal dysplasia (SMD). The distinctive findings in these sibs included short stature, hyperlordosis, bowed legs, shortening and bowing of the forearms, abnormal face, and radiographic changes characteristic of SMD. The common Kozlowski type of SMD (184252) is characterized by normal face and absence of forearm and genu varum deformity. In the Kozlowski type, the vertebral bodies are bullet-shaped anteriorly but without posterior wedging, and platyspondyly is more severe than in the novel form of SMD reported by Kozlowski and Poon (2003). Changes in the proximal femoral metaphyses are more marked in the Kozlowski type. In the SMD patients reported by Kozlowski and Poon (2003), the facies showed hypertelorism, prominent forehead, and flat nasal roof. Carpal and tarsal ossification delay, a constant feature of the Kozlowski type, was not present in the sibs reported by Kozlowski and Poon (2003). Inheritance was thought to be autosomal recessive, although gonadal mosaicism could not be excluded.