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, sa.9, ss.970-973, 2006 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 36 Sayı: 9
  • Basım Tarihi: 2006
  • Doi Numarası: 10.1007/s00247-006-0217-z
  • Dergi Adı: PEDIATRIC RADIOLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.970-973
  • Anahtar Kelimeler: bifid thumb, accessory thumb ossification, Larsen syndrome, filamin B, DISLOCATIONS, FACIES
  • Acıbadem Mehmet Ali Aydınlar Üniversitesi Adresli: Hayır

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.