[MIM 169 550]

(scapuloiliac dysostosis)

Extremely rare: incidence < 1/1.106. Unknown cause. A few cases of autosomal dominant or recessive transmission have been described. Dysostosis characterized by bilateral hypoplasia of the scapula and iliac wings. Other skeletal abnormalities are sometimes associated: hypoplasia of the collarbones, ribs, femurs and fibula as well as spina bifida and an accentuation of the physiologic lumbar lordosis. Occasionally, ocular malformations (coloboma of the iris and retina) have been observed. Intelligence is normal. Phenotype close to Cousin syndrome but without facial dysmorphism.

Anesthetic implications: 

check for spina bifida occulta before performing a neuraxial block

References : 

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Updated: April 2022