Melorheostosis
One or more bones of the limbs may be involved, but the spine, ribs, and skull are rarely affected. When the disease occurs along the full length of a limb,…
Arthrogryposis Multiplex Congenita
Clinical Manifestations. The neonate displays multiple contractures, dislocated joints, adduction/internal rotation of the upper limbs (“waiter’s tip” position), and stiff, diamond-shaped lower limbs. The deformities are usually bilateral, showing variable…
Fibrodysplasia Ossificans Progressiva and Progressive Diaphyseal Dysplasia
The syndrome is hereditary without sex predilection. Unaffected family members may have the toe deformities without the subsequent ectopic ossification. The name of the disease indicates its histologic resemblance to…
Bone Overgrowth and Erosion in Neurofibromatosis
Pseudarthrosis in the context of NF1 has been reported to occur with lesser frequency in other long bone regions, such as the humerus, radius, ulna, and clavicle. Tumors. Neurologic hamartomatous…
Spinal Deformities in Neurofibromatosis
Bone Overgrowth. Disorders of bone growth are fairly common manifestations of neurofibromatosis. They are usually recognized clinically by changes in the overlying soft tissues, with some examples including hemangioma, lymphangioma,…
Cutaneous Lesions in Neurofibromatosis
Over the course of their lifetime, patients with NF1 are at inherently greater risk for developing malignancy as compared with the general population. Some examples of neoplasms seen more frequently…
Diagnostic Criteria and Cutaneous Lesions in Neurofibromatosis
Neurofibromatosis occurs in 1 in 2,500 to 4,000 persons. It is transmitted as an autosomal dominant trait with close to 100% penetrance. There is also a characteristically high rate (~50%)…
Mucopolysaccharidoses
HURLER SYNDROME Hurler syndrome (MPS I-H) has an autosomal recessive inheritance and is caused by a deficiency in α-L-iduronidase. Elevated amounts of dermatan and heparan sulfates are identified due to…
Principles of Treatment of Skeletal Dysplasias
For genetic counseling of the family and patient faced with the choice of reproduction, it is essential to determine the specific diagnosis and mode of inheritance. It is no longer…
Kniest Dysplasia
Clinical Manifestations. The condition is usually evident at birth. Although the average birth length is 161/2 inches, adult height varies widely depending in part on the degree of contractures and…
