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 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