title: Desbuquois dysplasia, a reevaluation with abnormal and "normal" hands: radiographic manifestations.
abstract: 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 sagittal 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.
authors.affiliation: Département de Génétique, Hôpital Necker-Enfants Malades, 149 rue de Sèvres, 75015 Paris, France.
authors.forename: Laurence
authors.initials: L
authors.lastname: Faivre
authors.forename: Valérie
authors.initials: V
authors.lastname: Cormier-Daire
authors.forename: Alison M
authors.initials: AM
authors.lastname: Eliott
authors.forename: Fiona
authors.initials: F
authors.lastname: Field
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Pierre
authors.initials: P
authors.lastname: Maroteaux
authors.forename: Martine
authors.initials: M
authors.lastname: Le Merrer
authors.forename: Ralph
authors.initials: R
authors.lastname: Lachman
mesh_terms: D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D000293:Adolescent; D000328:Adult; D001827:Body Height; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D005145:Face / Q000002:abnormalities; D005260:Female; D005269:Femur / Q000002:abnormalities*; D006226:Hand Deformities / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007593:Joint Instability; D008297:Male; D008663:Metacarpus / Q000002:abnormalities; D010009:Osteochondrodysplasias / Q000000981:diagnostic imaging* / Q000235:genetics* / Q000473:pathology; D011859:Radiography; D012016:Reference Values; D012272:Ribs / Q000002:abnormalities; D013131:Spine / Q000002:abnormalities; D013577:Syndrome