Discussion in 'Spot Diagnosis' started by Roholamin, Jan 26, 2013.
What is your medical diagnosis ?
cleidocranial dysostosis - this chest x-ray demonstrates the absence of clavicles.
CXR taken for left sided chest pain.
Virtually absent clavicles in a patient with cleidocranial dysostosis. No cause for left sided chest pain is seen.
Cleidocranial dysostosis (CCD) is a skeletal dysplasia with predominant membranous bone involvement. It carries an autosomal dominant inheritance.
It is characterised by incomplete ossification of sketeal structures inclusive of the clavicle as well as defective development of the pubic bones, vertebral column, and long bones.
large head, with large fontenelles with delayed closure
high arched palate
neonatal distress due to thorax being narrowed and bell shaped
excessively mobile shoulders
may have genu valgum and short fingers
widened sutures / fontanelles
premature fusion of the coronal suture (brachycephaly)
frontal / parietal bossing
basilar invagination (atlanto axial impaction)
persistent metopic suture
hypoplasia / aplasia of lateral clavicle (absent clavicles) : may have two separate hypoplastic segments
hemivertebrae with spondylosis
small and high scapulae
hypoplasia of iliac bones
absent / delayed ossification of the pubic bone (pseudo widening of the symphysis pubis)
short / absent fibula
short / absent radius
hypoplasic terminal phalanges
Separate names with a comma.