Midfacial hypoplasia of variable degree is manifested by a flat or depressed nasal bridge, narrow nasal passages, and malar hypoplasia (see Plate 4-2). The nose has a fleshy tip and…

Physical Examination. Measurements of head circumference, height, weight, and arm span are taken, and body proportions are evaluated. A careful examination should be done for nonosseous signs such as cleft…

Skeletal dysplasias, or chondrodystrophies, are a heterogeneous group of disorders resulting in short-limb or short-trunk types of disproportionate short stature. In the types of dwarfism that primarily affect the limbs,…

The gene mutation for patients with classic FOP is located on chromosome 2q23-24, a locus that includes the activin A type I receptor gene. Bone morphogenetic proteins (BMPs) are extracellular…

Paget disease of bone is a localized skeletal disorder that is characterized by an increased number of osteoclasts that are large in size and contain multiple nuclei. These osteoclasts exhibit…

When patients with Paget disease are immobilized, such as for surgery, hypercalcemia may result. Other conditions that have been associated with hypercalcemia in patients with Paget disease include fractures, hyperparathyroidism,…

Although intravenous pamidronate has been available and efficacious, the requirement for a prolonged intravenous infusion over 4 hours for 3 consecutive days inhibits its use. Zoledronic acid, a nitrogen-containing bisphosphonate,…

Management of EDS disorders is directed at preventative care and supportive therapy. In general, individuals with EDS should not participate in contact sports or heavy exercise. Non–weight-bearing exercise is encouraged,…

The most severe form of osteopetrosis is the congenital malignant form, which is inherited as an autosomal recessive disorder. Children usually present with recurrent infections and episodes of hypocalcemia, small…

The birth prevalence of the EDS is about 1 in 5000 births, although this is likely an underestimate, particularly of milder forms. One commonly used classification recognizes six EDS types…