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Which of the following skeletal dysplasias is caused by a sex linked mutation of the short stature homeobox (SHOX) gene?
Ellis-van Creveld (EVC) syndrome
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Leri Weill dyschondrosteosis is a skeletal dysplasia characterized by short stature and bilateral Madelung deformities of the wrist. The SHOX gene is located on the X and Y chromosomes and a mutation on either of the sex chromosomes leads to the dysplasia (sex linked dominant).
Madelung deformity is a result of disruption of the volar ulnar physis of the distal radius (leading to radial inclination and a radiopalmar tilt). Symptoms from the wrist deformity include ulnocarpal impaction, restricted forearm rotation, and median nerve compression.
Cleidocranial dyplasia is an autosomal dominant defect in CBFA-1, a transcription factor that activates osteoblast differentiation. Pseudoachondroplasia is an autosomal dominant mutation in COMP on chromosome 19. Ellis-van Creveld (EVC) syndrome is an autosomal recessive mutation in the EVC gene causing acromesomelic shortening and postaxial polydactyly among other anomalies. Achondroplasia is an autosomal dominant mutation of FGFR-3.
Illustration A demonstrates a Madelung deformity of the wrist with characteristic increased radial inclination and increased volar tilt.
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Madelung's deformity of the distal radius is caused by which of the following?
Premature fusion of the distal radial ulnar joint
Physeal growth mismatch between the distal radius and ulna
Nutritional deficiency affecting the physeal zone of provisional calcification
Impaired growth of the volar and ulnar aspect of the distal radial physis
Madelung's deformity is that of excessive ulnar/palmar angulation of the distal radius caused by impaired growth of the volar and ulnar aspect of the distal radial physis. It may be caused by either a bony lesion in the palmar/ulnar corner of the distal radial physis or an abnormal radial-carpal ligament (Vicker's ligament). The other answers do not cause Madelung's deformity. Leri-Weill dyschondrosteosis is a rare genetic disorder caused by mutation in the SHOX gene that causes mesomelic dwarfism with associated Madelung's defomity of the forearm.
Illustration A is a radiographic example of Madelung's deformity.
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HPI - History of injury to left wrist 06 months back while playing handball. Had mild pain following injury but did not went for medical help.
Has mild pain left wrist on excessive activities, load lifting and on extreme of forearm movements.
Right hand dominant female.
How would you treat this patient?
Title: Madelungs Author: Michael J. Garcia, MD Duration: 16:48