title: A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.
abstract: 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.
authors.affiliation: Department of Radiology, Ajou University Hospital, Suwon, South Korea. kimoh@ajou.ac.kr
authors.forename: Ok-Hwa
authors.initials: OH
authors.lastname: Kim
authors.forename: Gen
authors.initials: G
authors.lastname: Nishimura
authors.forename: Hae-Ryong
authors.initials: HR
authors.lastname: Song
authors.forename: Yoshito
authors.initials: Y
authors.lastname: Matsui
authors.forename: Satoru
authors.initials: S
authors.lastname: Sakazume
authors.forename: Masanobu
authors.initials: M
authors.lastname: Yamada
authors.forename: Yoko
authors.initials: Y
authors.lastname: Narumi
authors.forename: Yasemin
authors.initials: Y
authors.lastname: Alanay
authors.forename: Sheila
authors.initials: S
authors.lastname: Unger
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
authors.forename: Sung Sup
authors.initials: SS
authors.lastname: Park
authors.forename: Shiro
authors.initials: S
authors.lastname: Ikegawa
authors.forename: Peter
authors.initials: P
authors.lastname: Meinecke
authors.forename: Andrea
authors.initials: A
authors.lastname: Superti-Furga
mesh_terms: D000293:Adolescent; D000328:Adult; D000365:Age Determination by Skeleton; D001848:Bone Diseases, Developmental / Q000150:complications / Q000000981:diagnostic imaging*; D002348:Carpal Bones / Q000002:abnormalities / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D005260:Female; D050278:Finger Phalanges / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D005532:Foot Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D006228:Hand Deformities, Congenital / Q000150:complications / Q000000981:diagnostic imaging; D006801:Humans; D007717:Knee / Q000002:abnormalities / Q000000981:diagnostic imaging; D008297:Male; D050279:Metacarpal Bones / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D010388:Pelvis / Q000002:abnormalities / Q000000981:diagnostic imaging; D035781:Siblings; D013131:Spine / Q000002:abnormalities / Q000000981:diagnostic imaging; D055815:Young Adult