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Extremity anomalies associated with Robinow syndrome
Amjed Abu-Ghname1,2, Jeffrey Trost1, Matthew J Davis1,2
1Division of Plastic Surgery, Michael E. DeBakey Department of Surgery, Baylor College of Medicine, Houston, Texas, USA.
American Journal of Medical Genetics. Part A
|September 25, 2020
Summary
Robinow syndrome, a rare genetic disorder, presents with limb and hand anomalies. This study details these findings, aiding in earlier diagnosis and management of this skeletal dysplasia.
Area of Science:
- Genetics
- Medical Genetics
- Skeletal Dysplasias
Background:
- Robinow syndrome is a rare genetic disorder.
- It is characterized by skeletal dysplasia, including extremity and hand anomalies.
- Locus heterogeneity and both dominant and recessive inheritance patterns are observed.
Purpose of the Study:
- To document the extremity and hand anomalies associated with Robinow syndrome.
- To improve the timeliness and accuracy of Robinow syndrome diagnosis.
- To provide a comprehensive understanding of the phenotypic spectrum.
Main Methods:
- Clinical examination and standard photographic images were used.
- A total of 13 patients with confirmed Robinow syndrome (dominant and recessive forms) were evaluated.
- Focused assessment of extremities, stature, and hands was performed.
Main Results:
- All patients exhibited limb shortening, with mesomelia being most common, followed by rhizomelia and micromelia.
- Eight distinct hand anomalies were identified in 12 out of 13 patients.
- The most frequent hand anomalies included brachydactyly, broad thumbs, and clinodactyly.
Conclusions:
- Robinow syndrome presents with a range of limb and hand anomalies, including brachydactyly, broad thumbs, and clinodactyly.
- Understanding these anomalies is crucial for early identification and diagnosis.
- This knowledge facilitates proactive management of associated sequelae.
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