Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease. CCD is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt-related transcription factor 2(RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental abnormalities, short stature, a wide pubic symphysis, a...

Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disease, which is caused by mutation in the gene on 6p21 encoding transcription factor CBFA1, i.e. runt-related transcription factor 2 (RUNX2). The disease is characterized by a persistently open anterior fontanelle and skull sutures, hypoplastic or aplastic clavicles, dental abnormalities, short stature, a wide pubic symphysis...

Craniosynostosis is a serious and common pediatric disease caused by the premature fusion of the sutures of the skull. Early fusion results in severe deformities in skull shape due to the restriction of bone growth perpendicular to the fused suture and compensatory growth in unfused skull plates. Calvarial (skull) abnormalities are frequently associated with severe impaired central nervous syst...

PURPOSE: There is growing evidence that nonsyndromic craniosynostosis (NSC) is associated with functional disabilities in learning and language. To further characterize the neurocognitive changes associated with this condition, we have used auditory event-related potentials (ERPs) to study language acquisition in NSC infants. Mismatch negativity (MMN) is an ERP component that has been used to p...

We present the case of a preterm 6-month-old African American infant who developed craniosynostosis secondary to rickets. This child developed rickets and macrocephaly by the age of 6 months. His head continued to enlarge, and a 3D CT obtained when the child was 2 years old revealed metopic and bilateral coronal craniosynostosis. This CT suggested increased intracranial pressure, and therefore,...