Léri-Weill Dyschondrosteosis: Comprehensive Imaging Guide and Clinical Overview
Overview
Léri-Weill Dyschondrosteosis (LWD) is a rare genetic skeletal dysplasia characterized by mesomelic shortening of the limbs, particularly the forearms and lower legs, accompanied by a classic wrist deformity known as Madelung deformity. It is named after Drs. André Léri and Jean A. Weill, who first described the syndrome, emphasizing its distinctive bone growth pattern and deformities. The syndrome typically presents with short stature and abnormal angular deformities of the radius and ulna, leading to wrist misalignment.
Inheritance follows a pseudoautosomal dominant pattern due to mutations or deletions in the SHOX gene, located in the pseudoautosomal region shared by both X and Y chromosomes. This means both males and females are equally susceptible, with a single altered gene copy sufficient to cause the phenotype. Sporadic and familial cases have been documented.
Key Imaging Features
- X-rays of the wrist characteristically show Madelung deformity, including dorsal and radial bowing of the radius and exaggerated palmar and ulnar tilt of the distal radius.
- Mesomelic shortening manifests as disproportionate shortening of the middle segments of the upper and lower limbs (radius/ulna and tibia/fibula), with mild to moderate bowing on radiographs.
- 3D computed tomography (CT) reconstructions may reveal premature partial fusion of cranial sutures (craniosynostosis) such as squamosal and coronal sutures, causing abnormal cranial shape and contour.
- Additional axial skeletal anomalies have been observed, including a reduced number of ribs (typically 10 on each side), ischial dysplasia, defective iliac-ischial junction ossification, and hip deformities such as coxa valga visible on pelvic imaging.
- Growth plate irregularities and delayed ossification can be subtle on routine X-rays but become more apparent with thorough staging imaging.
- Longitudinal imaging monitoring often demonstrates progressive deformity maturation during childhood and stabilization after skeletal maturity.
Pathophysiology
Léri-Weill Dyschondrosteosis results from haploinsufficiency of the SHOX gene, a critical regulator of bone growth located in the pseudoautosomal region of the sex chromosomes. The gene encodes a transcription factor essential for normal growth plate development, particularly influencing chondrocyte proliferation and differentiation in the distal radius and ulna and tibia and fibula.
Deficiency of SHOX disrupts endochondral ossification, leading to premature physeal closure or malformation of growth plates. This mechanism underlies the mesomelic limb shortening and characteristic Madelung deformity, due to aberrant growth of the distal radius, causing angular deviation, radial bowing, and dorsal subluxation of the ulna.
The craniofacial abnormalities and axial skeletal anomalies described in recent imaging studies—such as craniosynostosis and rib deficiency—are thought to stem from SHOX’s role in wider skeletal developmental regulation, though these features are less consistently observed.
Differential Diagnosis
| Condition | Distinguishing Imaging Features |
|---|---|
| Turner Syndrome | Short stature and Madelung-like deformity but accompanied by gonadal dysgenesis and typical karyotype abnormalities; lacks SHOX-specific mesomelic shortening pattern. |
| Langer Mesomelic Dysplasia | Severe mesomelic limb shortening with near-complete loss of SHOX gene function; more profound shortening than LWD, absent or hypoplastic radius and ulna, marked skeletal dysplasia on imaging. |
| Idiopathic Madelung Deformity | Isolated wrist deformity without limb shortening or systemic findings; usually no SHOX gene mutation detected. |
| Multiple Epiphyseal Dysplasia | Generalized epiphyseal irregularities affecting multiple joints on X-rays, lacking the mesomelic shortening or Madelung-specific features. |
Imaging Protocols and Techniques
Initial diagnostic imaging involves plain radiographs focused on the wrists and forearms, and ideally including the lower limbs to evaluate limb segment proportions and deformities.
- Oblique and lateral wrist X-rays should be performed to assess the extent of Madelung deformity, measuring radial inclination angle, palmar tilt, and ulnar variance;
- Pelvic and hip X-rays to identify coxa valga and iliac/ischial abnormalities;
- Use of 3D CT reconstructions provides exquisite spatial resolution for assessment of craniosynostosis, rib anomalies, and subtle pelvic dysplasias.
- MRI may be used adjunctively for detailed physis evaluation and soft tissue assessment in symptomatic joints but is not standard for diagnosis.
- Serial imaging through skeletal development is recommended for monitoring deformity progression and therapy planning.
Imaging pearls: Identify key measurements such as the ulnar tilt angle (>30° suggests significant Madelung deformity), and recognize the early radiographic signs of physeal irregularity indicating SHOX insufficiency. Pitfalls include misinterpreting physiological bowing or growth variation as pathology in younger children without clinical correlation.
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