Estimated prevalence: 1/100,000 births. Form of severe dwarfism with short limbs. Autosomal recessive transmission of a mutation of the DTDST or SLC26A2 gene on 5q32-q33.1

Association of:

-        at birth: thumbs in abduction (shortening of the 1st metacarpal), club feet, cleft palate with microretrognathism

-        cervical abnormalities: subluxation of C3 - C4

-        severe dwarfism (< 100 cm) with short limbs

-        XRay: enlargement of the lower part of the radius

-        later: permanent bending of the knees, early scoliotic deformity

-        normal intelligence

Anesthetic implications:

difficult mask ventilation and intubation; increased risk of bronchial intubation; pulmonary restrictive syndrome; difficulties in peripheral and central venous access; difficulties to measure BP non-invasively. Central and peripheral nerve blocks difficult to perform.

References : 

-        Le Merrer M.
Principales chondrodysplasies viables.
in Syndromes dysmorphiques, Coordinateurs D Lacombe et N Philip, Doin 2013, p175-90.

-        Lagoy JS, Kofford ND, Gosselin BJ, Russell MA, Morley BD.
Management of a parturient with diastrophic dysplasia.
A & A Case Reports 2015; 5: 6-8.

Updated: August 2019