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Cleidocranial dysplasia can also be diagnosed by ultrasound examination as early as 14 weeks' gestation. The feature that most often suggests a diagnosis of cleidocranial dysplasia is abnormal clavicles, which are either short or partially or totally absent. Other less specific findings include a short, broad (brachycephalic) skull with undermineralization, frontal bossing, and generalized underdeveloped ossification (bone formation).
Preimplantation genetic diagnosis (PGD), a procedure which can be used in conjunction with in vitro fertilization, may be available for families in which the disease-causing mutation has been identified. Click here to access a list of laboratories that offer PGD.