Delayed Closure andor Incomplete Ossification of Sutures and Fontanels

Hallermann Streiff Syndrome

Persistent patency of cranial sutures and fontanels at a time when they are meant to be closed The sutures and fontanels are prominent in the newborn, diminishing in size as ossification of the skull proceeds throughout childhood and early adulthood. The anterior fontanel is wide open at birth and shrinks to fingertip size by the age of 15-18 months. The posterior fontanel is usually closed to palpation by 4 months of life, but occasionally closure is evident at birth. The cranial sutures are...

Calvarial Ossification Defects

Johanson Blizzard Syndrome

Abnormal openings within the calvarial bones Congenital ossification defects of the calvaria are rare. Some of them, such as agenesis of entire bones of the cranial vault, are exceptional anomalies de Heer et al. 2003 . Others, such as foramina parietalia and cranium bifidum, are more common and will be discussed in this section. A miscellaneous group of syndromic disorders manifesting skull defects as one feature is also included. Fig. 1.13 a, b. Craniolacunia in a male newborn. Note the...

Rhizomelic Limb Shortening

Sensenbrenner Syndrome

Shortening of the proximal segments of the extremities humerus, femur By far the most common form of rhizomelic limb shortening is seen in patients with achondroplasia OMIM 100800 , an autosomal dominant disorder with complete penetrance. Although shortening can affect any of the tubular bones, including those in the hands and feet, in patients of all ages, it is most prominent in the proximal segments, especially those of the upper extremities humerus more involved than femur . In infancy,...

Exostoses Spurs Horns

Nail Patella

Cartilage-covered osseous excrescences exostoses , ossific spine-like outgrowths spurs , and triangular bony processes horns arising from the surface of a bone In this section three types of bone outgrowth are discussed, which differ from one another in origin, structure, radiographic manifestations, and diagnostic implications. Exostoses, or osteochondromas, are cartilage-capped bony protrusions of the external surface of a bone. They are not true neoplasms, but are rather the manifestations...