[MIM 114 290, 211 990, 602 196]

(campomelic dwarfism)

Prevalence: about 1/300,000 live births. Dominant autosomic transmission or sporadic mutation in SOX9 gene on 17q 24: it is either an heterozygous mutation or a chromosomal rearrangement that involves the gene. This gene is a transcription factor involved in the formation of bones, testicular development and the development of the sexual phenotype. The name of the disease comes from the Greek campos: curved or camptos: folded: the disease is therefore sometimes called camptomelic.

Association of non-skeletal and skeletal anomalies:

• skeletal anomalies:

-        slender and curved long bones of the lower limbs: the femurs are curved in the anterolateral direction and tibiae anteriorly (with a skin dimple at the peak of the curve).

-        abnormalities of the chest that is narrow (11 ribs)

-        hypoplasia of the scapulae

-        dislocation of the hips

-        instability of the atlas-axis joint

-        club feet

-         congenital dorsolumbar scoliosis

-        anomalies of the tracheobronchial cartilages: laryngotracheomalacia, narrow larynx

• non-skeletal anomalies:

-        facial dysmorphism: macrocephaly with a broad forehead, flattened face, micrognathia, hypertelorism, flattened base of the nose, low-set ears

-        cleft palate (velum)

-        sexual reversion in 75% of boys: XY genotype but ambiguous or female sexual organs

-        congenital heart disease (20%): VSD

-        kidney defect (38%): hydronephrosis

-        inner ear malformations

-        sometimes cerebral malformations

Early death usually due to respiratory failure in the weeks following birth. The 5-10% survivors present with a short stature, frequent respiratory infections, dislocation of the hip, dorsal scoliosis and hearing loss.

Anesthetic implications: 

check the echocardiography and renal function; short stature, restrictive respiratory syndrome; obstructive apnea; risk of difficult intubation; an endotracheal tube smaller than forseen on the basis of age should be used as first choice; a case of 'malignant hyperthermia' but without exposure to any  triggering anesthetic agents nor confirmed by muscle testing (suspicion only based on the proximity of a mutation responsible for MHS on 17q11.1-24)

References : 

-          Bosenberg A.
Anaesthetic considerations in little people: campomelic dysplasia.
SAJAA 2004 ; 10 : 11-3

-        Barros A, Teixeira F, Camacho MC, Alves C.
Campomelic dysplasia and malignant hyperthermia.
BMJ Case Reports 2011; doi:10.1136/bcr.04.2011.4112

Updated: December 2016