Desbuquois syndrome: Clinical, radiographic, and morphologic characterization

M. Shohat, R. Lachman, H. E. Gruber, Y. E. Hsia, M. S. Golbus, D. R. Witt, A. Bodell, C. R. Bryke, W. A. Hogge, D. L. Rimoin*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review


To further characterize the clinical, radiographic and chondro-osseous morphologic changes in the Desbuquois syndrome, 7 patients from three sibships are described. They all had prenatal onset severe rhizomelic and mesomelic shortness with marked joint laxity and marked micrognathia. Radiographic changes were distinct, consisting of a supernumerary ossification center between the proximal phalanx of the index finger and the second metacarpal, and variable thumb changes. The femoral necks showed enlargement of the lesser trochanter with metaphyseal beaking, producing a characteristic 'monkey wrench' (Swedish key) appearance. Growth plate cartilage showed dilated cisterns of rough endoplasmic reticulum in reserve zone chondrocytes. Three of the 7 cases were diagnosed prenatally by second trimester ultrasound and one case by fetoscopy. This syndrome exhibits significant phenotypic variability and must be differentiated from the Catel- Manzke syndrome which exhibits similar radiographic changes in the hands.

Original languageEnglish
Pages (from-to)9-18
Number of pages10
JournalAmerican Journal of Medical Genetics
Issue number1
StatePublished - 1994
Externally publishedYes


FundersFunder number
Eunice Kennedy Shriver National Institute of Child Health and Human DevelopmentP01HD022657


    • Desbuquois syndrome
    • histopathology
    • radiographic changes
    • skeletal dysplasia


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