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Culture of Murine Embryonic Metatarsals: A Physiological Model of Endochondral Ossification

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Published on: December 3, 2016

All Madelung deformities are not endocrine.

Ajay Kumar¹, Gopal K Rai, Javed Akhtar

¹Department of Medicine, LLRM Medical College, Meerut, Uttar Pradesh, India.

Indian Journal of Endocrinology and Metabolism

|November 20, 2013

Summary

Madelung deformity, a wrist abnormality, can be linked to genetic conditions. This case highlights Leri-Weill dyschondrosteosis (LWD) as a cause in a young girl with short stature.

Keywords:

Achondroplasia Madelung dyschondrosteosis

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Area of Science:

Orthopedics
Genetics
Pediatrics

Background:

Madelung deformity is a rare inherited disorder affecting the distal radial epiphysis.
It is often associated with endocrine disorders and genetic conditions like Leri-Weill dyschondrosteosis (LWD).

Observation:

A 13-year-old girl presented with bilateral wrist deformities and short stature.
Clinical examination revealed ulnar deviation and dorsal tilt of the hands without pain or trauma history.

Findings:

X-rays confirmed malformed distal radial epiphysis with dorsal and ulnar shift, indicative of Madelung deformity.
Normal spine X-rays, abdominal ultrasound, and hormonal/MPS screening ruled out other conditions.

Implications:

This case underscores the importance of recognizing Madelung deformity in children with short stature.
Accurate diagnosis of LWD is crucial for appropriate management and genetic counseling.