[MIM 223 800, 304 950]

(DMC syndrome, Smith-McCort dysplasia, Smith-McCort syndrome, pseudo-Morquio type 1 disease)

Very rare, but seems more common in the Middle East. Bone pathology which belongs to the group of the spondylo-epi-metaphyseal dysplasias. Autosomal recessive transmission of a mutation of the DYM gene on 18q21.1. This gene encodes for dymeclin, a protein that interacts with the apparatus of Golgi, but the function of which is unknown. 

Clinical picture:

-         progressive dwarfism, phenotypically similar to Morquio syndrome in the first years (onset between 1 and 18 months of age); barrel chest

-         microcephaly, coarse facies

-         rhizomelic limbs shortening

-         lumbar lordosis, thoracic kyphosis, scoliosis

-         mental retardation of varying importance: if mental retardation is not present, it is called Smith-McCort syndrome [ MIM 607 326 ]

Radiological image: platyspondyly with double wavy vertebral endplates,  epiphyso-metaphyseal dysplasia, narrow pelvis with irregularities of iliac wings (lace-like appearance).

Evolution: orthopedic problems such as scoliosis, kyphosis, deformation of the knees, hip dislocation. Risk of spinal cord compression by instability of the atloaxoid joint (hypoplasia of the odontoid)

Anesthetic implications: 

short stature: careful selection of the endotracheal tube size  and risk of bronchial intubation; check the stability of the atloaxoid joint; mental retardation

References:

•        Gupta V, Kholi A, Dewan V. 
  Gyggve-Melchior-Clausen syndrome. 
  Indian Pediatrics 2010; 47: 973-5.
•        Bansal S, Ramesch VJ, Rao GSU, Surve RM. 
  Anaesthesia and orphan disease: failed airway management in a case of Smith-McCort dysplasia. 
  Eur J Anaesthesiol 2013; 30: 775-6

Updated: August 2019