The 'chef's hat' appearance of the femoral head in cleidocranial dysplasia
Küçük Resim Yok
Tarih
2000
Yazarlar
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
British Editorial Society of Bone and Joint Surgery
Erişim Hakkı
info:eu-repo/semantics/openAccess
Özet
Cleidocranial dysplasia (CCD) is inherited as an autosomal dominant disorder characterised by failure of membranous ossification. The condition is due to a mutation of the cbfa1 gene on chromosome 6 which has a role in the development of osteoblasts from the mesenchymal cells. In their growing years, these patients have an unusual shape of the femoral head reminiscent of a 'chef's hat'. In order to confirm the consistency of this sign, we have reviewed the radiographs of 28 patients with CCD. All except three had this appearance. The sign was also seen in patients with coxa vara associated with a variety of other conditions. The chef's hat sign may occur secondary to the particular mechanical environment created by coxa vara as well as abnormal cellular function in patients with CCD. Although coxa vara has some influence on the shape of the femoral head, it is not entirely responsible for its morphology since it was present in only six of the 28 patients with CCD.
Açıklama
Anahtar Kelimeler
Adolescent; Article; Autosomal Dominant Disorder; Cell Function; Child; Chromosome 6; Cleidocranial Dysplasia; Clinical Article; Clinical Feature; Controlled Study; Coxa Vara; Female; Femur Epiphysis; Femur Head; Gene Mutation; Hip Radiography; Human; Male; Morphology; Priority Journal
Kaynak
Journal of Bone and Joint Surgery - Series B
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
82
Sayı
3
