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Symbrachydactyly in Turner's syndrome
1Orthopaedic Department, University Hospital Pellenberg, University of Leuven, Belgium.
Genetic Counseling (Geneva, Switzerland)
|January 1, 1995
Summary
This report details a rare case of symbrachydactyly in an adult female with Turner syndrome (45,X). The findings suggest a link between fetal edema in Turner syndrome and this hand malformation.
Area of Science:
- Medical Genetics
- Developmental Biology
- Clinical Case Reports
Background:
- Turner syndrome (45,X) is a chromosomal condition affecting females, often associated with prenatal fetal edema.
- Symbrachydactyly is a congenital anomaly characterized by underdeveloped fingers and/or hand.
- The etiology of symbrachydactyly is often sporadic and linked to vascular disruptions.
Observation:
- A case of symbrachydactyly affecting the right hand in an adult female diagnosed with Turner syndrome and a 45,X karyotype is presented.
- The malformation was unilateral and appeared to be a sporadic occurrence.
Findings:
- The pathogenesis of symbrachydactyly may be associated with an arterial vascular disruption sequence.
- This vascular disruption might be secondary to fetal edema, a common prenatal symptom in Turner syndrome.
Implications:
- This case highlights a potential connection between the prenatal complications of Turner syndrome and the development of symbrachydactyly.
- Further research may elucidate the specific mechanisms linking fetal edema in Turner syndrome to limb malformations.