A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.

Détails

ID Serval
serval:BIB_DDD00FDCF40D
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
A variant of Desbuquois dysplasia characterized by advanced carpal bone age, short metacarpals, and elongated phalanges: report of seven cases.
Périodique
American Journal of Medical Genetics. Part A
Auteur⸱e⸱s
Kim O.H., Nishimura G., Song H.R., Matsui Y., Sakazume S., Yamada M., Narumi Y., Alanay Y., Unger S., Cho T.J., Park S.S., Ikegawa S., Meinecke P., Superti-Furga A.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2010
Volume
152A
Numéro
4
Pages
875-885
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support,
Résumé
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.
Mots-clé
Adolescent, Adult, Age Determination by Skeleton, Bone Diseases, Developmental/complications, Bone Diseases, Developmental/radiography, Carpal Bones/abnormalities, Carpal Bones/radiography, Child, Child, Preschool, Female, Finger Phalanges/abnormalities, Finger Phalanges/radiography, Foot Deformities, Congenital/complications, Foot Deformities, Congenital/radiography, Hand Deformities, Congenital/complications, Hand Deformities, Congenital/radiography, Humans, Knee/abnormalities, Knee/radiography, Male, Metacarpal Bones/abnormalities, Metacarpal Bones/radiography, Pelvis/abnormalities, Pelvis/radiography, Siblings, Spine/abnormalities, Spine/radiography, Young Adult
Pubmed
Web of science
Création de la notice
14/03/2011 16:08
Dernière modification de la notice
20/08/2019 16:02
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