Majewski syndrome (2)
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(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