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...

Due to the possibility to examine at the patient bedside or incubator, ultrasound imaging of the central nervous system, particularly through the anterior fontanelle, is the most common diagnostic examination performed in neonates and infants with neurological problems. Despite its common application, this method has certain limitations. These limitations are associated with cross-sections of t...

A commercially available wide field of view real-time mechanical sector scanner can be used to image the neonatal cranium. Because of the small transducer head size, the open anterior fontanelle can function as an acoustic window. By thus avoiding bone, higher frequency transducers may be used to improve image resolution. Infants may be scanned quickly without sedation in their isolettes in the...

Four infants were seen on six separate occasions with febrile illnesses associated with a bulging anterior fontanelle and irritability. They had signs of a transient form of intracranial hypertension.

UNLABELLED Hypophosphatasia is characterized by deficiency of serum alkaline phosphatase with defective bone and teeth mineralization. We report on an 11-month-old boy who developed a complex clinical picture characterized by bulging anterior fontanelle, growth failure, nephrocalcinosis and impaired bone mineralization during high-dose calcium and vitamin D supplementation. This therapy had bee...