Terminal phalangeal accessory ossification center of the thumb: an additional radiographic finding in Larsen syndrome


Alanay Y. , Utine G. E. , Lachman R. S. , Krakow D., Tuncbilek E.

PEDIATRIC RADIOLOGY, cilt.36, ss.970-973, 2006 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 36 Konu: 9
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1007/s00247-006-0217-z
  • Dergi Adı: PEDIATRIC RADIOLOGY
  • Sayfa Sayıları: ss.970-973

Özet

Larsen syndrome is an autosomal-dominant disorder characterized by multiple joint dislocations, vertebral anomalies and dysmorphic facies. Both autosomal-dominant and autosomal-recessive forms of the disorder have been proposed. Individuals with autosomal-dominant Larsen syndrome have characteristic "cylindrical-shape" thumbs caused by broad, shortened phalanges. Autosomal-dominant Larsen syndrome results from heterozygosity for mutations in filamin B, a cytoskeletal protein involved in multicellular processes. We report here a patient with a duplicated or accessory distal thumb phalanx and multiple large joint dislocations who was shown to be heterozygous for a filamin B mutation predicting the amino acid substitution G1691S. This adds a new radiographic finding, duplicated or accessory distal phalanx, to the radiographic abnormalities seen in this rare dominant disorder.