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Werner mesomelic dysplasia with Hirschsprung disease
Alice Goldenberg1, Mathieu Milh, Pascal de Lagausie
1Department of Medical Genetics, Necker-Enfants-Malades Hospital, 149 rue de Sèvres, 75043 Paris cedex 15, France.
American Journal of Medical Genetics. Part A
|November 5, 2003
Summary
Mesomelic dysplasia type Werner, a rare genetic disorder, is characterized by limb abnormalities. This study reports a new case associated with Hirschsprung disease and bilateral cryptorchidism, expanding the known clinical spectrum.
Area of Science:
- Genetics and Developmental Biology
- Clinical Medicine
- Rare Diseases
Background:
- Mesomelic dysplasia type Werner is a rare skeletal dysplasia characterized by tibial absence and polysyndactyly.
- Its molecular basis remains unknown, with autosomal dominant inheritance proposed.
- Associated anomalies include triphalangeal thumbs and absent patellae.
Observation:
- A novel case of mesomelic dysplasia type Werner is presented.
- This patient exhibited Hirschsprung disease and bilateral cryptorchidism.
- Previous reports have noted Hirschsprung disease in one other case.
Findings:
- The current case expands the phenotypic spectrum of mesomelic dysplasia type Werner.
- The association with Hirschsprung disease and bilateral cryptorchidism is highlighted.
- Potential genetic overlap with triphalangeal thumb polysyndactyly syndrome on chromosome 7q36 is discussed.
Implications:
- This report contributes to understanding the variable expressivity of mesomelic dysplasia type Werner.
- Further research into the genetic underpinnings of this condition and its associated anomalies is warranted.
- Improved diagnostic and management strategies may arise from characterizing these complex presentations.