Cleidocranial dysostosis

Case contributed by Dr Sharifah Intan


10 years old, brought by mum to GP due to short stature, referred to Paeds unit

Patient Data

Age: 10 yrs
Gender: Male
Race: Asian

Normal clavicles are not seen on both sides.
Presence of bilaterally symmetrical bony structures projected over the both posterior arch of 3rd ribs which extends horizontally in two separated segments. Both of its medial segment appears to articulate with the elongated transverse processes of T3 while the lateral segment appears to be continous from bilateral scapula blades. 
Both scapulas appears small and high in location.
Bifid vertebras of C7 until T3.
The normal glenoid fossa are not seen bilaterally with the humeral head inferiorly located however with normal outline.



Biparietal skull bossing.
Widened anterior fontanelle with presence of metopic suture.
Multiple small intrasutural bones (wormian) mainly in the lambdoid and posterior sagittal sutures.
Pneumatization of maxillary sinuses and sphenoid sinus noted. 
The mandible is normal in appearance.

Cervical - pelvis:
Normal spine alignment. Mild increased lordosis of cervical spine.
Bifid vertebras of C7 until T2 with partially fused T3.
Diastasis of the symphysis pubis.

Upper limbs and hands:
Bilaterally elongated second metacarpal bone, short hypoplastic distal phalanges of the hand bilaterally and pointed terminal tufts.
Mild clinodactyly of 5th fingers on both sides (more on right side).

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Case information

rID: 31114
Published: 24th Sep 2014
Last edited: 14th Aug 2019
Inclusion in quiz mode: Included

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