Citation, DOI, disclosures and article data
At the time the article was created Radiopaedia admin had no recorded disclosures.View Radiopaedia admin's current disclosures
At the time the article was last revised Bahman Rasuli had no recorded disclosures.View Bahman Rasuli's current disclosures
Campomelic dwarfism, also known as campomelic dysplasia, is a rare form of skeletal dysplasia.
Campomelic dwarfism is rare with an estimated incidence of ~1:200,000 births.
- genital malformations: may be present in ~66% of patients 6
Diagnosis is usually readily made at birth or with antenatal ultrasound. It is frequently associated with a number of non-skeletal abnormalities including:
It is thought to result from a mutation in a gene located on chromosome 17 which encodes for a transcription factor named Sox9 4. There may be an autosomal recessive inheritance 6.
- lower extremity bowing: femoral/tibial bowing
- reduced chest circumference: narrow fetal thorax
- hypoplastic scapulae
Plain films are all that is usually required to confirm the diagnosis.
- dislocated hip and knee joints
- bowing of femur and tibia
- hypoplastic fibula
- dysplastic acetabulum and iliac bones
Treatment and prognosis
Campomelic dysplasia is not compatible with long term survival and 97% of patients die within their first year due to respiratory insufficiency.
History and etymology
It is derived from the Greek "campo" (bent) and "melia" (limb).
- 1. Dähnert W. Radiology review manual. Lippincott Williams & Wilkins. (2007) ISBN:0781738954. Read it at Google Books - Find it at Amazon
- 2. Blickman JG, Parker BR, Barnes PD. Pediatric radiology, the requisites. Mosby Inc. (2009) ISBN:0323031250. Read it at Google Books - Find it at Amazon
- 3. Bowerman RA. Anomalies of the fetal skeleton: sonographic findings. AJR Am J Roentgenol. 1995;164 (4): 973-9. AJR Am J Roentgenol (abstract) - Pubmed citation
- 4. Meyer J, Südbeck P, Held M et-al. Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum. Mol. Genet. 1997;6 (1): 91-8. doi:10.1093/hmg/6.1.91 - Pubmed citation
- 5. Balcar I, Bieber FR. Sonographic and radiologic findings in campomelic dysplasia. AJR Am J Roentgenol. 1983;141 (3): 481-2. AJR Am J Roentgenol (citation) - Pubmed citation
- 6. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon