CASE 124

Clinical Presentation

A 7-year-old child presents with abnormal dentition, large anterior fontanelle, and hypermobile scapulae.

Figure 124A

Radiologic Findings

Anteroposterior radiograph (Fig. 124A1) of the cranium demonstrates a large, patent anterior fontanelle, along with a partially patent metopic suture. Three-dimensional CT (Fig. 124A2) confirms abnormally enlarged anterior fontanelle and partially patent metopic suture. Posteroanterior chest radiograph (Fig. 124A3) reveals extremely hypoplastic clavicles, with a slight proximomedial translation of the scapulae. Posteroanterior pelvis radiograph (Fig. 124A4) demonstrates hypoplastic ischia and pubic rami. The iliac wings are small and narrow. Acetabular roofs are horizontal, and the symphysis pubis is widened.

Figure 124B Patient with pyknodysostosis. Note marked osteosclerosis and distal tapering of tufts (acro-osteolysis; 1, arrowheads). Lateral radiograph of calvarium shows large anterior fontanelle (2, arrowheads), osteosclerosis, and abnormal mandibular angle.

Diagnosis

Cleidocranial dysplasia

Differential Diagnosis

• Pyknodysostosis (Figs. 124B1 and 124B2)
  
• Hypophosphatasia
  
• Osteogenesis imperfecta
  
• Hydrocephalus
  
• Congenital pseudoarthrosis of the clavicle
  
• Birth-induced fracture

Discussion

Background

Formerly termed cleidocranial dysostosis, this entity is now more properly termed cleidocranial dysplasia to reflect the fact that this condition is a generalized skeletal dysplasia. Cleidocranial dysplasia is an autosomal dominant condition characterized by defective midline ossification, including abnormalities of the calvarium, dentition, clavicles, sternum, and pelvis. Incidence is 1 per 1,000,000 live births.

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