Metaphyseal dysplasia Pyle type
Overview
Metaphyseal dysplasia is a very rare disorder in which the outer part of the shafts of long bones is unusually thin with a tendency to fracture. Aside from valgus knee deformities (commonly known as knock-knee), many patients with metaphyseal dysplasia exhibit few or no symptoms. However, the disorder comes in a variety of forms, some of which cause serious problems including mental retardation, blindness, and deafness.
Symptoms
The characteristic sign of metaphyseal dysplasia is splaying of the long bones, more severely than in craniometaphyseal dysplasia. Gross Erlenmeyer flask flaring is seen in the tubular bones of the leg, particularly in the femur. Unlike craniometaphyseal dysplasia, few signs occur in the skull in metaphyseal dysplasia, apart from protrusions over the eye sockets. Metaphyseal dysplasia is also marked by expanded bones of the rib cage and pelvis, and by changes in the angle of the lower jaw. The humerus bone of the arm tends to be unusually broad. Other signs include scoliosis (a sideways curvature of the spine) and osteoporosis (a condition that makes bones brittle). Patients may complain of muscle weakness or joint pain. Dentists may notice malocclusion, an inability of the teeth to properly close. Some spinal changes are possible, associated with the flaring of tubular bones. These may include platyspondyly, a broadening of the vertebrae. Jansen type In addition to the above-mentioned signs, Jansen-type metaphyseal chondrodysplasia is characterized by short arms, legs, and stature (short-limbed dwarfism), which become apparent during early childhood. Affected children experience a gradual stiffening and swelling of their joints. Often, they develop a characteristic "waddling gait" and a stance that appears as if they were squatting. Some facial abnormalities may be evident at birth. These include prominent, widely spaced eyes, a receding chin, or a highly arched palate. Some affected adults develop unusually hardened bones in the back of the head, which sometimes results in deafness and/or blindness. Abnormal cartilage development may harden into rounded bone masses that may be noticeable on the hands, feet, and elsewhere. Other signs and symptoms associated with Jansen-type metaphyseal chondrodysplasia include clubbed fingers, a fifth finger permanently fixed in a bent position, fractured ribs, mental retardation, psychomotor retardation, and high blood levels of calcium. Curvature of the spine in these patients may be front-to-back as well as sideways. Testing the blood and urine for calcium can assist in confirming a diagnosis. Jansen-type metaphyseal chondrodysplasia was formerly referred to as metaphyseal dysostosis.
Diagnosis
Diagnosis is usually by x ray, in which the bone deformities of metaphyseal dysplasia are very noticeable, even if not apparent in a normal clinical examination. A medical doctor will look for valgus knee deformities. A radiologist will look for Erlenmeyer-flask shaped femur bones and ensure that any deformities to cranial bones are minor, to rule out craniometaphyseal dysplasia. The radiologist will also watch for abnormally broad humerus, radius, and ulna bones.
Prognosis
In many cases, patients with metaphyseal dysplasia may be symptomless and very healthy. Other patients, including those with Jansen-type metaphyseal chondrodysplasia, may have more severe complications including blindness, deafness, or mental retardation.
Treatment
Metaphyseal dysplasia cannot be directly treated, but some individual symptoms, such as osteoporosis or joint problems, may be treated or surgically corrected.