Hypochondroplasia
Hypochondroplasia is inherited as an autosomal dominant trait, but most cases appear to be sporadic, presumably the result of a spontaneous mutation affecting FGFR-3, resulting in a milder dysplasia than…
Achondroplasia—Diagnostic Testing
In the teenage period, slowly progressive symptoms such as paresthesias, weakness, pain, and paraplegia develop and may be aggravated by obesity and prolonged standing or walking. Initially, the patient can…
Achondroplasia—Clinical Manifestations of Spine
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…
Achondroplasia—Clinical Manifestations (Continued)
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…
Achondroplasia—Clinical Manifestations
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,…
Fibrodysplasia Ossificans Progressiva
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
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…
Paget Disease of Bone (Continued)
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,…
Pathophysiology and Treatment of Paget Disease of Bone
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,…
Ehlers-Danlos Syndromes (Continued)
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,…
