37 Dyschondrosteosis
Léri-Weill syndrome
Mesomelic dwarfism, short hands and feet, coxa valga, Madelung deformity
Frequency: Undetermined; most common form of mesomelic dwarfism; more frequent and severe in fe- males.
Genetics
Pseudoautosomal (OMIM 127300); caused by muta- tions of SHOX gene (OMIM 312865), which has been mapped to Xpter-p22.32; homozygous mutation leads to mesomelic dysplasia, Langer type.
Clinical Features
• Short stature (the adult height is 155 cm in males and 145 cm in females)
• Mesomelic dwarfism
• Normal facies
• Short forearm, Madelung deformity (often asym- metrical), limited elbow and wrist motion
• Short hands and feet
• Coxa valga
• Short tibia
Differential Diagnosis
• Madelung deformity due to trauma or infection
• Multiple exostosis with Madelung deformity
• Other forms of mesomelic dysplasia
• Turner syndrome
Radiographic Features Extremities
• Short and bowed radius (in relation to ulna)
• Ulnar slanting of distal radial articular surface, with triangle-shaped distal radial epiphysis
• Increased distance between radius and ulna
• Dorsal subluxation of distal ulna
• Triangularization of carpal bones, with lunate at the apex of the triangle
• Elbow dislocation
• Shortening and moderate bowing of tibia
• Genu valgum
• Coxa valga Spine
• Stenosis of the lumbar spine
Bibliography
Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Veke- mans M, Le Merrer, Munnich A, Cornier-Daire V. SHOX mutations in dyschondrosteosis (Leri-Weill syndrome).
Nature Genet 1998; 19: 67–9
Dawe C, Wynne-Davies R, Fulford GE. Clinical variation in dyschondrosteosis: a report on 13 individuals in 8 families.
J Bone Joint Surg Br 1982; 64: 377–81
Felman AH, Kirkpatrick JA. Madelung’s deformity: observa- tions in 17 patients. Radiology 1969; 93: 1037–42
Langer LO. Dyschondrosteosis, a heritable bone dysplasia with characteristic roentgenographic features. Am J Roentgen 1965; 95: 178–88
Shears DJ,Vassaal HJ, Godman FR, Palmer RW, Reardon W, Su- perti-Furga A, Scambler PJ, Winter RM. Mutation and dele- tion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nature Genet 1998; 19: 70–3
Dyschondrosteosis 688
Dyschondrosteosis 689
D
Fig. 37.1. aPatient 1, adult. b, c Pa- tient 2, adult. d Patient 3, 13 years.
Note shortening and bowing of the radius, ulnar slanting of distal radius, triangularization of the carpal bones, with the os lunate located at the proximal apex, and dorsal subluxation of distal ulna
a
d
b c
