Vertebral and costal anomalies present from birth.

Clinical picture:

-        a short stature with a short neck and trunk  (the upper limbs seem long)

-        hemivertebrae especially at the thoracolumbar level, more rarely at the cervical level cervical; risk of scoliosis

-        costal anomalies: absence or posterior fusion of ribs,  abnormal size and shape

More rarely:

-        malformation of the odontoid process, abence of the atlas

-        spina bifida

-        anal malformations (atresia, imperforation)

-        urogenital malformations

-        polydactyly (lower limb)

Two phenotypes:

• 1) spondylocostal dysplasia; vertebral and costal anomalies with short neck; severe  recessive or dominant autosomal transmission of mutations of the DLL3 gene (19q 13). Good prognosis.
• 2) spondylothoracic dysplasia: crab-shaped thorax without costal abnormalities; autosomal recessive transmission. Significant mortality linked with a decreased pulmonary capacity (restrictive syndrome).

Anesthetic implications:

respiratory failure, check the cervical vertebrae, possibly difficult neuraxial block

References : 

•    Vazquez-Lopez ME, Lopez-Conde MI, Somoza-Rubio C et al. 
  Anomalies vertébrales et costales : syndrome de Jarcho-Levin.
  Description d’un cas et revue de la littérature. 
  Revue du Rhumatisme 2005 ; 72 : 448-81.

Updated: March 2019