Bisphosphonate therapy for painless fracture: change of HSAN 1 clinical course with biphosphonate and Vitamin D therapy.

Hereditary Sensory and Autonomic Neuropathies comprise a set of 5 rare neurologic conditions, little known to radiologists as the neurologic and skin abnormalities precede the radiographic changes by months or even years. We report a Caucasian patient with a clinical history of HSAN, most consistent with subtype 1, whose progressive, destructive bone changes of the foot were not only controlled but to a degree reversed by the administration of bisphosphonates (Alendronate ) and vitamin D (Colecalciferol). The authors believe that combined bisphosphonate and vitamin D therapy is the treatment of choice for progressive bony changes in HSAN1. This therapy may be beneficial in other neuropathic osteoarthropathies and possibly osteolytic bone disorders.

[Stüve-Wiedemann syndrome in two siblings: focusing on a male patient with the longest actual survival rate]. / Stüve-Wiedemann-Syndrom bei einem Geschwisterpaar: Unter besonderer Berücksichtigung eines Patienten mit zurzeit längster Uberlebensrate.

BACKGROUND: We report on two siblings with Stüve-Wiedemann syndrome (SWS). The older patient, a 16-year-old boy, is -- as to our knowledge -- the longest-term survivor of this syndrome worldwide. The younger sister with the same clinical and radiographic findings died at the age of 10 months. DEFINITION: Characteristic clinical symptoms are: muscular hypotonia, camptodactyly; respiratory insufficiency, swallowing difficulties; reduced sweating with heat intolerance, episodes of hyperthermia. Typical radiographic findings are: progressive bone bowing, unusual bone fractures, abnormal trabecular pattern, middle face hypoplasia. GENETICS: The SWS is identical with the Schwartz-Jampel syndrome (SJS) type 2, which is gene-located on chromosome 1. So far further genetic details of the SWS can be expected in the near future. The genetic transmission is autosomal recessive. In inbred high risk populations the occurrence of the SWS is increased. THERAPY: For the present only symptomatic therapy is available: extended intensive care during infancy, supportive pediatric orthopedics later on.

Distinctive enchondromatosis with spine abnormality, regressive lesions, short stature, and coxa vara: importance of long-term follow-up.

We report a girl with a unique type of enchondromatosis observed from birth to puberty. Radiographic abnormalities documented at the age of 14 months included distinctive spondylometaphyseal enchondromatous types of lesions with minimal involvement of the short tubular and flat bones. Follow-up radiographic examinations documented progressive coxa vara and hypoplasia/dysplasia of the left ulna. At puberty, the short tubular bones appeared normal. There was marked regression of the flat bone, rib, and spinal lesions. This case shows the importance of long-term observation of unclassified forms of skeletal dysplasia.

Broad clavicles in trisomy 8 mosaicism: a new sign.

Symmetrical clavicular widening was observed in a boy with mosaic trisomy for chromosome 8. This sign may be considered in conjunction with other clinical and radiographic features as an indication for chromosomal studies.

Additional case of opsismodysplasia supporting autosomal recessive inheritance.

The authors describe clinical and radiological findings in a 2-year-old boy from consanguineous parents. A diagnosis of opsi(s)modysplasia (= delayed maturation) had been made (MIM 258480). The purpose of this paper is to draw attention to the striking radiological manifestations. Consanguinity in the parents of our case and occurrence in a brother and sister in a previous report support an autosomal recessive transmission.

Synovial complications of spondylepiphyseal dysplasia of late onset.

We describe 2 patients with a late-onset type of spondylepiphyseal dysplasia who developed multiple synovial complications. The synovial manifestations in the first patient included recurrent episodes of acute arthritis due to calcium pyrophosphate dihydrate crystal deposition and, later, chronic synovitis with radiologically evident chondrocalcinosis. In the second patient, cholesterol crystals in synovial fluid, multiple osteochondromata, and a histologic appearance resembling pigmented villonodular synovitis on synovial biopsy were seen. Osteochondromata were identified in 4 other members of this patient's family. Synovial manifestations in the osteochondrodysplasias may be more common than previously recognized.

Chondrodysplasia spondylometaphysealis.

Four pairs of sibs with different types of spondylometaphyseal chondrodysplasias were observed. A short description of two sibs from the Royal Alexandra Hospital for Children, Sydney, is presented. All the patients will be the subject of a separate report.