[MIM 602 531]

(Grange blood occlusion syndrome; progressive arterial occlusion syndrome-high blood pressure-cardiopathy-fragile bone-brachysyndactyly)

Prevalence < 1/106.  Autosomal recessive or dominant transmission of a mutation of gene YY1AP1 1q22).

Association of:

-        progressive stenosis of large arteries: cerebral, renal, abdominal, sometimes coronary

-        high blood pressure

-        brachysyndactyly (hands and feet)

-        bone fragility with frequent fractures

-        facial dysmorphism: hypertelorism, mandibular hypoplasia

-        learning difficulties

-        sometimes: cardiac anomalies: bicuspid aorta, aortic stenosis

Anesthetic implications:

check blood pressure and renal function; echocardiography. Avoid any intraoperative hypotension.

References:

-        Volonghi I, Frigerio M, Mardighian D, Gasparotti R, Del Zotto E et al.
Grange syndrome: an identifiable cause of stroke in young adults.
Am J Med Genet Part A 2012 ; 158A : 2894-8.

Updated: March 2017