MyPACS.net: Radiology Teaching Files > Case 462761

never visited DYSCHONDROSTEOSIS (LERI-WEILL SYNDROME)
Contributed by: Safwan Halabi, Resident, Cincinnati Children's Hospital Medical Center, Ohio, USA.
Patient: 1 year 10 month old male
History: Difficulty in pronation and supination of the upper extremity in addition to abnormal gait
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Findings:

Shortened, bowed radii bilaterally, with what appears to be
congenital dislocation of the radial heads. This would account for lack of
pronation and supination at the elbow joint. In addition, radius and ulna
appear somewhat shortened, with respect to the humerus.

In the lower extremities, note is made of shortened tibias and fibulas, with respect to the femurs. There appears to be coxa valga deformity of the hips, which is likely congenital, and may be a cause of problems with the child's gait.

DDX
- dyschondrosteosis
- mesomelic dwarfism
- Turner's syndrome

Diagnosis: Dyschondrosteosis (Leri-Weill Syndrome)
Discussion:

Leri-Weill syndrome (LWS) is an autosomal dominant form of mesomelic dysplasia (dwarfism) condition which occurs in 1/100,000 individuals. It is characterized by mesomelic shortening of the forearms and lower legs and by bilateral Madelung deformity of the wrists. This is a variable condition. Males with LWS may have final adult heights ranging from 156 cm (~ five feet) to normal height. In general, females tend to be
more affected than males.

Approximately 60% of individuals with LWS have mutations in the SHOX gene
located in the pseudoautosomal region of the X and Y chromosomes. Due to the location of this gene, this condition is inherited in a dominant
fashion. This means that an individual with LWS has a 50% chance of passing the condition on with each pregnancy regardless if their offspring is male or female. Genetic testing is currently available and results take
approximately 2-3 weeks.

Most mutations in the SHOX gene are caused by new (de novo) mutations and are not inherited from a parent. It is likely that a new mutation has occurred in this patient since his parents did not display any findings of mesomelia. The risk that the patient's siblings will also have LWS is low
(<1%).

Radiographic features include failure of development of the distal radial epiphysis and premature fusion of the medial side of the physis, allowing the carpal bones to fit into the V-shaped deformity (Madelungs deformity of the forearm). Also seen are a short radius with dorsal and lateral bowing, often with subluxation or dorsal dislocation of the distal end of the ulna. Similar but less severe alterations occur in the tibia and fibula. Tibia vara and coxa valga may also occur.

References: http://www.amershamhealth.com/medcyclopaedia/medical/Volume%20III%201/LRI%20%20WEILL%20SYNDROME.ASP [4/23/04]
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Additional Details:

Case Number: 462761Last Updated: 04-23-2004
Anatomy: Skeletal System   Pathology: Congenital
Modality: Conventional RadiographExam Date: Access Level: Readable by all users
Keywords: mesomelic dwarf dyschondrosteosis madelungs deformity leri-weill syndrome tibia vara coxa valga

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