(Lenz-Majewski nanism)

Very rare. Spontaneous or autosomal recessive transmission of a mutation of the PTDSS1 gene (8q22.1) coding for the phosphatidylserine synthase 1, one of the genes involved in the synthesis of phospholipids and expressed in mitochondria.

Clinical presentation:

-          sclerosing bone dysplasia causing hyperostosis of the skull bones, of the vertebrae, of the long bone diaphyses and  leading to a short stature

-           facial dysmorphism (hypertelorism, broad forehead, large ears) and dental anomalies (enamel aplasia)

-           loose and wrinkled skin (cutis laxa), delayed closure of the fontanels, highly visible cutaneous veins, joint hyperlaxity

-            distal limb abnormalities: brachydactyly and symphalangism, syndactyly

-            intellectual disability

-            progeroid aspect

Anesthetic implications:

short stature: be careful about the size and length of the tracheal tube; fragile teeth.

References :

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Updated: February 2020