Radiographic features
Whilst some symptoms of DSS can be visually identified, many key symptoms of DSS cannot be identified as such. Therefore, radiographic techniques are required to reach a correct diagnosis for DSS. Abnormal features of the axial skeleton
Skull
In the skull, sclerosis is predominantly observed in the cranial vault and skull base. Other symptoms displayed in the skull include dental anomalies such as abnormal dentition, hypodontia and impaired tooth calcification; intracranial calcifications, which is the calcification of the brain parenchyma; narrow optic canal and other cranial foramina. Abnormal features of the appendicular skeleton
Chest
The ribs are sclerotic, truncated, expanded, and featureless. Sclerosis is also present in the sternum, clavicles and scapulae. Pectus carinatum, a chest deformity, is also characteristic of the disease. Long bones
Sclerosis of epiphyses, diaphyses, and metaphyses with increased radiolucency are key characteristics of the disease. In addition, mottled metaphyseal sclerosis and widening are also present in patients. Development of irregular patchy sclerosis along the bone can also be identified, as well as metaphyseal flaring evolve towards Erlenmeyer flask deformity with nonuniform patches of sclerosis, which are especially prevalent in older patients.The metadiaphyses, a portmanteau of the metaphysis and diaphysis, are bulbous and expanded with bowing and relative radiolucency. The expanded regions are also sclerotic and gives the characteristic bone-in-bone appearance. Spine
Platyspondyly is the development of flattened vertebral bodies, which is one of the most notable symptoms as it distinguishes DSS from other similar diseases such as osteosclerosis. It is observed to be most significant in the thoracic region with increased intervertebral spaces.
Dysosteosclerosis (DSS), also known as autosomal recessive dysosteosclerosis or X-linked recessive dysosteosclerosis, is a rare osteoclast-poor form of osteosclerosis that is presented during infancy and early childhood, characterized by progressive osteosclerosis and platyspondyly. Platyspondyly and other skeletal abnormalities are radiographic features of the disease which distinguish DSS from other osteosclerotic disorders. Patients usually experience neurological and psychological deterioration, therefore patients are commonly associated with delayed milestones. The cause of DSS is unclear. Different genetic mutations are observed in patients, therefore it is suggested that the cause is genetically heterogeneous. Genetic mutations responsible include, but are not limited to, TCIRG1, TNFRSF11A , and SLC29A3. It is congenital and inherited as an autosomal recessive disorder, however, an X-linked recessive inheritance is outlined in some families. There is no cure for DSS. Supportive care includes orthopaedic care. Symptomatic treatment involves the reduction in calcium intake in diet. Less than 30 cases of DSS have been reported in literature to date. Symptoms and Signs
The main signs and symptoms of DSS includes:
Skeletal abnormalities: platyspondyly, sclerosis
Physical abnormalities: short stature, macrocephaly
Neurological abnormalities: delayed development, mental retardation

Skeletal abnormalities
In general, patients with DSS develop osteopenia and bone fragility. DSS also affects specific areas of the human skeleton, such as the spine, skull, pelvis, and limbs. The most common sign of DSS is platyspondyly, which is the flattening of vertebral bodies of the axial skeleton, present in 80-99% of individuals with DSS.