Achondroplasia

Case contributed by Dr Mahmoud Yacout Alabd

Presentation

Short stature.

Patient Data

Age: 1-year-old
Gender: Male
X-ray

Shortened long bones of the upper and lower limbs with metaphyseal flaring.

Anterior Flaring of the ribs. 

Small pelvis (trident pelvis).

CT

CT Brain

Typical findings of skull base achondroplasia; Large skull vault with small skull base, narrow foramen magnum, prominent forehead, depressed nasal bridge, dilated suprasellar cistern, vertical straight sinus and dilated supratentorial ventricular system with normal 4th ventricle.

Case Discussion

Achondroplasia is a congenital disorder due to deficient cartilaginous development, hence it is usually seen in bones growing with enchondral ossification such as long bones and skull base, while bones growing via membranous ossification grow normally, such as the vault of the skull. This discrepancy in growth results in the typical skull appearance including narrowed foramen magnum compressing the cervico-medullary junction and CSF outflow with consequent hydrocephalus, as in this patient.

Typical CNS findings that are sen in this patient include:

  • large skull vault and prominent forehead
  • depressed nasal bridge
  • small skull base and narrow foramen magnum
  • widened suprasellar cistern
  • vertical straight sinus
  • supratentorial hydrocephalus with normal 4th ventricle

The long bones are typically shortened due to arrested growth with widened metaphysis. The ribs show similar changes in the form of widening of the anterior segments at the cartilaginous junction with the sternum. The pelvic bones are small resulting in small pelvic outlet and trident appearance of the pelvis. Overall there is generalised dwarfism. Achondroplasia is the commonest cause of limb shortening and dwarfism.

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Case information

rID: 40346
Case created: 18th Oct 2015
Last edited: 2nd May 2017
Inclusion in quiz mode: Included

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