DESBUQUOIS SYNDROME - CLINICAL, RADIOGRAPHIC, AND MORPHOLOGIC CHARACTERIZATION

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 micrognat hia. 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 nec ks showed enlargement of the lesser trochanter with metaphyseal beakin g, producing a characteristic ''monkey wrench'' (Swedish key) appearan ce. Growth plate cartilage showed dilated cisterns of rough endoplasmi c reticulum in reserve zone chondrocytes. Three of the 7 cases were di agnosed prenatally by second trimester ultrasound and one case by feto scopy. This syndrome exhibits significant phenotypic variability and m ust be differentiated from the Catel-Manzke syndrome which exhibits si milar radiographic changes in the hands. (C) 1994 Wiley-Liss, Inc.