Cleidocranial Dysplasia
Cleidocranial dysplasia (CCD) is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development[ncbi.nlm.nih.gov]
BACKGROUND: Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder characterised by hypoplastic or absent clavicles, increased head circumference, large[ncbi.nlm.nih.gov]
( absent clavicles ): may have two separate hypoplastic segments 5 supernumerary ribs hemivertebrae with spondylosis small and high scapulae Pelvis hypoplasia of iliac bones[web.archive.org]
Crane-Heise Syndrome
There were unusual facial features, digital anomalies, cleft palate, a malformed tongue that prevented swallowing, absent clavicles and genital hypoplasia.[ncbi.nlm.nih.gov]
clavicles.[ncbi.nlm.nih.gov]
[…] calvarium, characteristic facial features comprising cleft lip and palate, hypertelorism, anteverted nares, low-set and posteriorly rotated ears, vertebral anomalies and absent[ncbi.nlm.nih.gov]
Coxa Vara
[…] being absent, absence of medial third of clavicle and pseudoarthrosis of the clavicle.[scielo.org.za]
The sternal aspect of both clavicles was absent, and he was able to almost approximate his shoulders under his chin ( Figure 2 ).[scielo.org.za]
The proband's paternal grandmother (III-3) has short stature, with features in keeping with CCD, including an absent right clavicle and wormian bones in the cranium.[scielo.org.za]
Shoulder Dislocation
Associated fracture (30% of cases) - eg, humeral head, greater tuberosity, clavicle, acromion. Recurrent shoulder dislocation.[patient.info]
Axillary artery damage (more likely if brachial plexus injury is present - look for axillary haematoma, a cool limb and absent or reduced pulses).[patient.info]
Autosomal Dominant Prognathism
The thoracic cage is small with short ribs, with underdeveloped clavicles to varying degrees and in approximately 10% of cases, clavicles are completely absent.[amhsr.org]
The clavicle is either absent or is underdeveloped. These patients have the ability to touch their shoulders together.[quizlet.com]
[…] or hypoplastic clavicles, and depressed nasal bridge — are distinct, and cleidocranial dysplasia is not associated with immunologic dysfunction.[nejm.org]
Micrognathism
Radiographic features severe neurologic impairment cleidocranial dysplasia absent clavicles macrocrania diastasis of sutures micrognathia absent thumbs and distal phalanges[radiopaedia.org]
Massive Osteolysis
On palpation, the scapula and the clavicle were absent.[academic.oup.com]
Generalized Connective Tissue Syndrome
Case Report First Online: 15 June 2010 Abstract We report a case of systemic lupus erythematosus (SLE) with Jaccoud’s arthropathy, presenting atlantoaxial subluxation and multiple joint hypermobility. Radiological studies showed degenerative changes, but no destructive changes like rheumatoid arthritis (RA) were[…][link.springer.com]
Hypertelorism
clavicles, vertebral anomalies, and pectus excavatum (Cohen 1979).[rrnursingschool.biz]
[…] anterior cranium bifidum) and bulging of the forehead, repre- the coronal sutures), and various skeletal and soft tissue abnormalities, including prominent scapulae, small or absent[rrnursingschool.biz]
Stiff Skin Syndrome
There may be skeletal abnormalities, such as dystrophic clavicles and coxa vulga and joint contractures. Nipples : may be hypoplastic.[drmhijazy.com]
Sexual maturation : is absent. Intelligence is normal. Death usually occurs in the second decade as a result of severe generalized atheroma.[drmhijazy.com]