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"Ring leg deformity" in Bartsocas-Pappas syndrome
Ali Murat Kalender1, Ali Dogan, Ahmet Sebik
1Department of Orthopedics and Traumatology, Yuzuncu Yil University, Medical Faculty, Van, Turkey. kalenderalimurat@hotmail.com
European Journal of Medical Genetics
|February 24, 2009
Summary
This study describes an extremely rare foot deformity in Bartsocas-Pappas syndrome, characterized by a constricting skin band resembling a ring. Researchers propose the term "ring leg" deformity for this unique lower extremity anomaly.
Area of Science:
- Genetics and developmental biology
- Orthopedics and reconstructive surgery
Background:
- Bartsocas-Pappas syndrome is an extremely rare genetic disorder.
- This case highlights a unique presentation within the syndrome, originating from a Turkish family.
- Literature review revealed only two prior cases with similar, though not identical, foot deformities.
Observation:
- A 20-day-old infant presented with a rare lower extremity anomaly.
- A distinct skin band was observed between the second and third toes on both the right and left feet.
- The deformity visually resembled a constricting ring around the affected digits.
Findings:
- The observed foot deformity is exceptionally rare, with only two similar cases documented globally.
- The syndactyly between the 2nd and 3rd toes, coupled with the constricting band, forms a unique presentation.
- No specific medical term currently exists to describe this particular anomaly.
Implications:
- The proposed term "ring leg" deformity offers a novel descriptor for this rare condition.
- This case contributes to the understanding of the phenotypic variability in Bartsocas-Pappas syndrome.
- Further research may elucidate the specific genetic or developmental mechanisms underlying this "ring leg" deformity.
