Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: Radiographic manifestations

• Published in: American journal of medical genetics. Part A Vol. 124A; no. 1; pp. 48 - 53
• Main Authors: Faivre, Laurence, Cormier-Daire, Valérie, Eliott, Alison M., Field, Fiona, Munnich, Arnold, Maroteaux, Pierre, Merrer, Martine Le, Lachman, Ralph
• Format: Journal Article
• Language: English
• Published: Hoboken Wiley Subscription Services, Inc., A Wiley Company 01.01.2004
• Subjects: Abnormalities, Multiple - diagnostic imaging; Abnormalities, Multiple - genetics; Abnormalities, Multiple - pathology; Adolescent; Adult; Body Height; Child; Child, Preschool; chondrodysplasia; Diagnosis, Differential; extra ossification center; Face - abnormalities; Female; Femur - abnormalities; Hand Deformities - diagnostic imaging; Hand Deformities - genetics; Hand Deformities - pathology; Humans; Infant; Infant, Newborn; Joint Instability; Male; Metacarpus - abnormalities; Osteochondrodysplasias - diagnostic imaging; Osteochondrodysplasias - genetics; Osteochondrodysplasias - pathology; Radiography; Reference Values; Ribs - abnormalities; Spine - abnormalities; Syndrome
• ISSN: 1552-4825; 1552-4833
• DOI: 10.1002/ajmg.a.20440

Radiological features of 35 patients with the diagnosis of Desbuquois dysplasia were analyzed. The diagnosis of Desbuquois dysplasia was based on the association of specific facial alterations, markedly short stature of prenatal onset, joint laxity, ‘Swedish key’ appearance of the proximal femur, and advanced carpal and tarsal bone age. Patients were divided into two groups, depending on whether or not typical hands with an extra ossification center distal to the second metacarpal and/or a delta phalanx of the thumb were present (group 1, 46%) or absent (group 2, 54%). In this study, beside the ‘Swedish key’ appearance of the proximal femur and advanced carpal and tarsal ossification, we were able to define three additional major radiographic criteria for the diagnosis of Desbuquois dysplasia, including flat acetabular roof, elevated greater trochanter, and proximal fibular overgrowth. Other manifestations included wide metaphyses, flat epiphyses, coxa valga, coronal and saggital clefts of the vertebrae, wide anterior rib portions, medial deviation of the foot, and enlarged first metatarsal. We conclude that characteristic hand abnormalities are not mandatory for the diagnosis of Desbuquois dysplasia. © 2003 Wiley‐Liss, Inc.