Fuhrmann, syndrome
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(Fuhrmann - Rieger - Sousa syndrome, hypoplasia/aplasia of the fibula syndrome - curvature of the femur - oligodactyly)
Extremely rare. Due to a partial loss of function of the WNT7A gene (3p25). Another mutation in the same gene leads to the Schinzel type phocomelia .
Association of:
- aplasia or hypoplasia of the fibulae and the ulna with tibial or radial curvature
- abnormality of the fingers: poly-, oligo - or syndactyly. hypoplasia of nails
- curved femurs
- also frequent: hypoplasia of the pelvis with congenital dislocation of the hip
- absence or fusion of the bones of the tarsus
- aplasia or hypoplasia of the toes
Anesthetic implications:
difficult peripheral venous access
References :
- Woods CG, Stricker S, Seemann P, Stern R, Cox J et al.
Mutations in WNT7A cause a range of limb malformations, including Fuhrmann syndrome and Al-Awadi/Raas-Rothschild/Schinzel phocomelia syndrome.
Am J Hum Genet 2006; 79: 402-8.
- Manouvrier-Hanu S.
Malformations syndromiques des membres in
Progrès en Pédiatrie : syndromes dysmorphiques par Lacombe D et Philip N, Doin 2013, p 201-20
Updated: April 2019