Majewski syndrome (2)

[MIM 210 720]

(MOPD type II)


Warning: there is another syndrome with the same name, see above (subtype of the short ribs-polydactyly syndrome)

Very rare. Osteodysplastic dwarfism with microcephaly following autosomal recessive transmission of a mutation of the PCNT gene  (21q22.3) coding for pericentin.

Association of:

-        intrauterine growth retardation followed by major postnatal growth retardation resulting in disharmonious dwarfism

-        progressive microcephaly

-        facial dysmorphism: prominent nose, eyes that appear exorbitant in infancy, slightly dysplastic ears without a lobule, abnormal teeth (small or missing teeth)

-        bone abnormalities: very short upper and lower limbs in their distal segments, brachymesophalangia and brachymetacarpia, V-shaped split-out of the distal femoral metaphyses, proximal epiphysiolysis of the femur, narrow pelvis, caxa vara

-        subluxation of some joints: radial head, knees ...

-        scoliosis and truncal obesity in adolescence

-        cerebral vascular abnormalities (19 %): arterial dilations in the form of aneurysms or Moya-moya disease (see this term); risk of hemorrhagic or thrombotic stroke

-        pleasant and extroverted personality, squeaky speech        

-        sometimes predisposition to infections


Anesthetic implications:

short stature; microcephaly; it is difficult to anticipate the correct endotracheal tube size; avoid any hyper- or hypoventilation as well as low arterial blood pressure (cerebral circulation !).


References :

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Updated: February 2020