A variant of desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases

Ok Hwa Kim, Gen Nishimura, Hae Ryong Song, Yoshito Matsui, Satoru Sakazume, Masanobu Yamada, Yoko Narumi, Yasemin Alanay, Sheila Unger, Tae Joon Cho, Sung Sup Park, Shiro Ikegawa, Peter Meinecke, Andrea Superti-Furga

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21 Citations (Scopus)


We present the clinical and radiological findings of seven patients with a seemingly new variant of Desbuquois dysplasia (DBQD) and emphasize the radiographic findings in the hand. All cases showed remarkably accelerated carpal bone ages in childhood, but none of the patients had an accessory ossification center distal to the second metacarpal, or thumb anomalies, instead, there was shortness of one or all metacarpals, with elongated appearance of phalanges, resulting in nearly equal length of the second to fifth fingers. The two sibs followed for 20 years showed narrowing and fusion of the intercarpal joints with age and ultimately, precocious degenerative arthritis. The changes in the feet were similar to those of the hands, with advanced tarsal bone ages, shortness of the metatarsals and elongation of the second and third toes. Other radiographic findings were narrowness of the intervertebral disc spaces resulting in precocious degenerative spondylosis and progressive scoliosis. The femoral neck was short and thick and showed a persistent enlargement of the lesser trochanter with a high-riding, bulbous greater trochanter that became more prominent with age. Molecular testing of the diastrophic dysplasia sulfate transporter (DTDST) gene was performed on six patients and no mutations were detected. This radiographic and clinical observation further adds to the evidence that there may be subtypes of DBQD. Long-term follow-up showed that severe precocious osteoarthritis of the hand and spine is a major manifestation of this specific variant.

Original languageEnglish
Pages (from-to)875-885
Number of pages11
JournalAmerican Journal of Medical Genetics, Part A
Issue number4
Publication statusPublished - 2010 Apr 1



  • Advanced bone age
  • Desbuquois dysplasia
  • MCPP
  • Metacarpophalangeal pattern profile
  • Multiple joint dislocations
  • Skeletal dysplasia

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

Cite this

Kim, O. H., Nishimura, G., Song, H. R., Matsui, Y., Sakazume, S., Yamada, M., Narumi, Y., Alanay, Y., Unger, S., Cho, T. J., Park, S. S., Ikegawa, S., Meinecke, P., & Superti-Furga, A. (2010). A variant of desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: Report of seven cases. American Journal of Medical Genetics, Part A, 152(4), 875-885. https://doi.org/10.1002/ajmg.a.33347