SPONASTRIME DYSPLASIA - REPORT ON A FEMALE-PATIENT WITH SEVERE SKELETAL CHANGES

We report on a 6-year-old girl with SPONASTRIME dysplasia, characteriz ed by short-limbed dwarfism, a relatively large head, midfacial hypopl asia, a saddle nose, moderate deformities of the vertebral bodies, str iated metaphyses, and normal intelligence. She showed severe skeletal changes including marked delay of epiphyseal ossification, evident met aphyseal dysplasia, and osteopathia striata more pronounced than in mo st of the previously reported patients with this disorder. The patient we describe and a male patient reported by Camera et al. [1994: Pedia tr Radiol 24:322-324] are likely to represent the severely-affected en d of the clinical spectrum of the disorder. These findings thus rule o ut the X-linked mode of inheritance of the disorder proposed by Camera et al. [1994: Pediatr Radiol 24: 322-324]. Alternatively the two seve rely-affected patients may represent a variant form of the disorder. T here is evidence that SPONASTRIME dysplasia is a genetically heterogen eous disorder. (C) 1996 Wiley-Liss, Inc.