[MIM 211 180]

(Bowen syndrome type hutterite)

Extremely rare. Autosomal recessive transmission of a mutation of the EMG1 gene (12p13.3) causing a ribosomal biogenesis disorder. This mutation is very frequent in the Hutterite population, an abaptist sect originating  from Switzerland. They emigrated to North America - Provinces of the Prairies and Great Plains in South Dakota) during the 19th century. The rate of inbreeding is very high. Only a few cases have been reported elsewhere in the world and appear to be due to another mutation.

Clinical presentation:

-         intrauterine growth failure that persist in the postnatal period

-         microcephaly present at birth (64 %)

-         micrognathia (100 %)

-         prominent nose without  glabellar angle (97 %)

-        rocker bottom feet (80 %)

-         stiffened joints of hands, knees and hips

-          clino-camptodactyly of the 5th finger

-         sometimes: cleft palate, congenital heart defect

-         extreme psychomotor retardation

-         difficulties for feeding and aspiration pneumonia

-         death in childhood

Anesthetic implications: 

microcephaly, short stature, risk of difficult intubation.

References : 

-        Lowry RB, Innes M, Bernier FP, McLeod DR, Greenberg CR et al.
Bowen-Conradi syndrome: a clinical and genetic study. 
Am J Med Genet 2003; 120A:423-8.

Updated: November 2019