Radiographic characteristics of the hand and cervical spine in fibrodysplasia ossificans progressiva

• Mishima Kenichi

  Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine

• Kitoh Hiroshi

  Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine The Research Committee on Fibrodysplasia Ossificans Progressiva

• Haga Nobuhiko

  The Research Committee on Fibrodysplasia Ossificans Progressiva

• Nakashima Yasuharu

  The Research Committee on Fibrodysplasia Ossificans Progressiva

• Kamizono Junji

  The Research Committee on Fibrodysplasia Ossificans Progressiva

• Katagiri Takenobu

  The Research Committee on Fibrodysplasia Ossificans Progressiva

• Susami Takafumi

  The Research Committee on Fibrodysplasia Ossificans Progressiva

• Matsushita Masaki

  Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine

• Ishiguro Naoki

  Department of Orthopaedic Surgery, Nagoya University Graduate School of Medicine

Abstract

Fibrodysplasia ossificans progressiva (FOP) is a disabling heritable disorder of connective tissue characterized by progressive heterotopic ossification in various extraskeletal sites. Early correct diagnosis of FOP is important to prevent additional iatrogenic harm or trauma. Congenital malformation of the great toes is a well-known diagnostic clue, but some patients show normal-appearing great toes. The thumb shortening and cervical spine abnormalities are other skeletal features often observed in FOP. This study aimed to address the quantitative assessment of these features in a cohort of patients with FOP, which potentially helps early diagnosis of FOP. Radiographs of the hand and cervical spine were retrospectively analyzed from a total of 18 FOP patients (9 males and 9 females) with an average age of 13.9 years (range 0.7-39.3 years). The elevated ratio of the second metacarpal bone to the distal phalanx of the thumb (> +1SD) was a consistent finding irrespective of the patient's age and gender. Infant FOP patients, in addition, exhibited an extremely high ratio of the second metacarpal bone to the first metacarpal bone (> +3SD). The height/depth ratio of the C5 vertebra increased in patients over 4 years of age (> +2SD). Additionally, the ratio of (height+depth) of the C5 spinous process to the C5 vertebral depth was markedly elevated in young patients (> +2SD). We quantitatively demonstrated the hand and cervical spine characteristics of FOP. These findings, which can be seen from early infancy, could be useful for early diagnosis of FOP even in patients without great toe abnormalities.

Journal

• Intractable & Rare Diseases Research

  Intractable & Rare Diseases Research 3 (2), 46-51, 2014

  International Research and Cooperation Association for Bio & Socio-Sciences Advancement

Keywords

• Fibrodysplasia ossificans progressiva
• early diagnosis
• radiographic characteristics

Details

• CRID: 1390282680521210240
• NII Article ID: 130005008088
• DOI: 10.5582/irdr.2014.01009
• ISSN: 2186361X
• ISSN: 21863644
• Web Site: https://search.jamas.or.jp/link/ui/2015159750
• Text Lang: en
• Data Source:
  • JaLC
  • Crossref
  • CiNii Articles
  • KAKEN
• Abstract License Flag: Disallowed