- A dictionary of medical eponyms

Silfverskiöld's syndrome

Alternative eponyms

  • Grudzinski's osteochondropathy
  • Morquio’s variant syndrome
  • Morquio-Silfverskiöld syndrome

Related people

An unusual form of osteochondrodystrophy with skeletal defects.

Description

An unusual form of osteochondrodystrophy with skeletal defects, mainlsiy slight vertebral changes with shortened or curved long bones. In 1925 and 1926 Silfverskiöld described a total of 5 patients with 4 different skeletal dysplasias. As the disease pictures vary greatly, it is imposssible to give any usable definition. However, Silfverskiöld deserves credit for distinguishing a series of skeletal dyslpasias from achondroplasia.

Silfverskiöld’s patient was an eleven-year old boy in whom the symptoms included disproportionate dwarfism with short legs, large head, and flattened nose, broad chest, large head, and flattened nose, broad chest, and large trochanters. Bearing and gait resembled that seen in bilateral luxation of the hip joint with marked lumbar lordosis and accentuated inclination of the pelvis. Lordosis due to flexion contractures of the hips. The upper arms were shorter and forearms were longer than normal. Other features include genu valgum, coxa vara, loose joints, and powerful musculature. The aetiology in unknown

It is possibly a variant of Morquio’s syndrome. Term is obsolete in modern nomenclature.

Hans Fredrik Helweg-Larsen (1917-1969) and Mørch later reported the syndrome in a family. The skeletal changes are transmitted as a simple dominant character.

Bibliography

  • N. Silfverskiöld:
    A «forme fruste» of chondrodystrophia with changes simulating several of the known «local malacias».
    Acta radiologica, Stockholm 1925, 4: 44-57. Sur la question de la achondroplasie et de sa forme périphérique.
    Acta radiologica, Stockholm, 1926, 5: 233.
  • Z. Grudzinski:
    Über eine neue mit Achondroplasie (Chondrodystrophie) verwandte Krankheitsform. (Osteochondropathia multiplex Grudzinski, Achondroplasia atypica Silfverskiöld, Dystrophie spongieuse epiphysaire systematisée Ghimus).
    Fortschritte auf dem Gebiete der Röntgenstrahlen, Hamburg, 1928, 38: 873-882.

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