[MIM 608 811]

(Nishimura-Schmidt endochondral gigantism)

Prevalence < 1/106. Very rare form of pre- and postnatal gigantism due to excessive growth of the endochondral bone and associated with:

-        facial dysmorphism: sloping forehead, narrow skull, marked supra-orbital arches, large ears, micrognathism

-        elongated and narrow chest with little subcutaneous fat tissue , kyphoscoliosis

-        big hands and feet, joint contractures

-        hoarseness

-        skeletal anomalies: vertebral dysplasia (large vertebrae with a delay of ossification resulting in an ovoid deformation), wide metaphyses, thickening of the bones of the base of the skull

-        normal or accelerated bony age

-        in some cases: slow response of cortisol secretion to insulin

Anesthetic implications:

no reported anesthetic case; risk of difficult intubation linked to the micrognathia and the hoarseness. Risk of adrenal failure ?

References :

-        Handa A, Muroya K, Ishii T, Nishimura G.
Additional report on Moreno-Nishimura-Schmidt overgrowth syndrome.
Am J Med Genet A 2017; 173A: 2834-7.

Update: November 2017