A rare syndrome with most often right-sided clavicular
More than 200 cases have been
reported worldwide. Most likely autosomal dominant inheritance, although the
majority of cases (approximately two thirds) seem to occur sporadically.
Commonly, the disorder is characterized by a
painless, prominent lump or spike under the skin causing some discomfort
with activity combined with short stature, high arched palate, and irregular
upper teeth. Vascular thoracic outlet syndrome has been described in a small
number of patients. Radiography shows a pseudoarthrosis in the middle third
of the clavicle, closer to the junction with the lateral third. The two
segments are not in continuity, the ends are enlarged, and no callus or
reactive bone formation can be seen. The lesion manifests almost always on
the right side (fewer than 10 left-sided cases have been reported, almost
all of which were associated with dextrocardia; in 10% the lesion occurs
bilaterally), leading to speculations that excessive pressure from the right
subclavian artery, normally at a higher level on the right, causes the
pathology. Other researchers hypothesized that the anomaly results from
failed coalescence of the two primary ossification centers of the clavicle.
Differential diagnosis includes Cleidocranial Dysostosis and
posttraumatic pseudarthrosis. Treatment is either conservative or surgical.
The airway should be assessed for
difficult management because of the maxillary anomalies. In cases with
suspected or known difficult intubation, spontaneous ventilation should be
maintained until the airway has been secured. Central venous access via the
subclavian route on the affected side probably should be avoided because access may be distorted
and therefore difficult.
Cleidocranial Dysplasia: Generalized skeletal dysplasia resulting in
defects in the development of the skull, clavicles and pelvis, and dental
Craniofrontonasal Dysplasia: An X-linked syndrome, strangely more severe in females, combining frontonasal
dysplasia, coronal craniosynastosis, various other skeletal and soft tissue abnormalities (including
clavicular pseudarthrosis) and mental retardation.
Ahmadi B, Steel HH: Congenital pseudarthrosis of the clavicle. Clin Orthop 126:130,
Eltl V, Wild A, Krauspe R, Raab P: Surgical treatment of congenital pseudarthrosis of the clavicle: a report
of three cases and a review of the literature. Eur J Pediatr Surg 15:56, 2005.
Schnall SB, King JD, Marrero G: Congenital pseudarthrosis of the clavicle: A
review of the literature and surgical results of six cases. J Pediatr Orthop 8:316, 1988.