Cleidocranial dysplasia, a rare skeletal disorder with failure of the cranial closure: case-based update

Demographic, clinical, and radiological characteristics of cleidocranial dysplasia: A systematic review of cases reported in south America

“…66 full-text papers were assessed for eligibility before inclusion, of which 32 were excluded for different reasons. Finally, 34 manuscripts were included in the study, which were classified into 24 single case presentations [ [11] , [12] , [13] , [14] , [15] , [16] , [17] , [18] , [19] , [20] , [21] , [22] , [23] , [24] , [25] , [26] , [27] , [28] , [29] , [30] , [31] , [32] , [33] , [34] ] and 10 case series reports [ [35] , [36] , [37] , [38] , [39] , [40] , [41] , [42] , [43] , [44] ], representing 48 patients among a total of 72 cases included in this study ( Fig. 1 ).…”

Clinical‐radiological approach for the diagnosis of cleidocranial dysplasia in adults: A familial cases series

“…CCD presents clinical signs of dysmorphology of bones located in the skull, maxillae, and thorax; these signs are pathognomonic for the disease 2,3,12 . The most frequent radiological findings in the skull are multiple Wormian bones, segmental thickening of the calvaria, lack of ossification of the sutures, persistent fontanelles, dysplastic changes in the occiput, hypoplasia of the maxilla, absence or delayed mineralization of the nasal bones, and hypoplastic sinuses 3,12–15 . Supernumerary and impacted teeth are common in the maxilla 16 .…”

Cleidocranial dysplasia with hypermobile Ehlers-Danlos syndrome: A case report

“…The main characteristic features are short stature, delayed closure of the fontanelles, brachycephaly [3] , hypertelorism, bell-shaped thorax, and a partial or complete absence of clavicles leading to excessive mobility of shoulders on one or both sides. The vertebral column, the pelvis, and the hands and feet bones may also be affected [4] .…”