[MIM 119 600, 216 330]

(Cleidocranial dysostosis , Marie-Sainton syndrome, 6p microdeletion)

Very rare. Autosomal dominant transmission of a mutation in the RUNX2 gene on 6p21 involved in the development of chondrocytes and osteoblasts. As the mutation is often associated with a microdeletion of chromosome 6 p, the clinical presentation is variable depending on the number of lost genes. Association of dental and skeletal anomalies, mainly at the level of the bones that present membranous ossification  (clavicles, skull, face).

Clinical presentation:

-         face: hypertelorism, midface hypoplasia (maxillary hypoplasia and depressed nasal rooth), wide and bulging forehead

-         teeth: arched palate (sometimes cleft palate), supernumerary teeth

-         skull: persistence of a large fontanelle, wormian bones

-         clavicles:  usually bilateral anomalies, ranging from aplasia (10 %) to hypoplasia or dysplasia (sometimes compression of the brachial plexus and/or the subclavian artery by a bony remnant) with exaggerated mobility of the scapular girdle

-          other: narrow 'cone-shaped' chest; frequent scoliosis and/or kyphosis, spondylolisthesis, spondylolysis, anomalies of the vertebral segmentation 

-         anomalies in the pelvis: wide pubic symphysis, coxa vara, hypoplasia of iliac wings

-        short stature

-        nails hypoplasia

-        sometimes slow healing of skin

Anesthetic implications: 

avoid any compression of the cranial vault (open fontanelles), fragile teeth, central venous access under ultrasound control, risk of difficult intubation. Difficult neuraxial blocks in case of scoliosis or vertebral anomalies

References : 

-        Trigui M, Ayadi , Ould Elhassan M et al. 
La dysplasie cleidocrânienne : rapport de 2 cas et revue de la littérature. 
Arch Pédiatr 2011 ; 18 : 672-7.

-        Ioscovich A, Barth D, Samueloff A, Grissaru-Granovsky S, Halpern S. 
Anesthetic management of a patient with cleidocranial dysplasia undergoing various obstetric procedures. 
Int J Obstet Anesth 2009; 19: 106-8.

-        Wang CJ, Neustein SM. 
General anesthesia in a patient with cleidocranial dysplasia. 
MEJ Anesth 2012 ; 21 : 889-90.

-        Baig T. 
Cleidocranial dysplasia: a case report under spinal and general anesthesia in adult female. 
J Anesth Clin Res 2014; 5; 433-4.

-        Puvabanditsin S, February M, Mayne J, McConnell J, Mehta R.
Cleidocranial dysplasia with 6p21.1-p12.3 microdeletion :a case report and literature review.
Cleft Palate Craniofacial J 2018 ; 55 : 891-4.

Updated: July 2018