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Pena-Shokeir phenotype with variable onset in three consecutive pregnancies
D Paladini1, A Tartaglione, A Agangi
1Fetal Cardiology Unit, Department of Gynecology and Obstetrics, University Federico II of Naples, Naples, Italy. paladini@cds.unina.it
Summary
Pena-Shokeir syndrome, a genetic disorder, presents with arthrogryposis, facial anomalies, and lung issues. This case highlights variable onset of arthrogryposis in affected pregnancies, crucial for genetic counseling.
Area of Science:
- Medical Genetics
- Prenatal Diagnosis
- Developmental Biology
Background:
- Pena-Shokeir syndrome is an autosomal recessive disorder.
- Key features include neurogenic arthrogryposis, facial anomalies, and pulmonary hypoplasia.
- Previous prenatal diagnoses were reported prospectively or with family history.
Observation:
- This report details a patient with three consecutive pregnancies affected by Pena-Shokeir syndrome.
- The onset of arthrogryposis varied between 12 and 18 weeks of gestation across these pregnancies.
- This variability in developmental timing was observed in the primary diagnostic feature.
Findings:
- The chronological development of arthrogryposis in Pena-Shokeir syndrome can vary significantly between pregnancies.
- This variability challenges precise prenatal prediction based solely on gestational age.
- Understanding this developmental plasticity is key for accurate diagnosis.
Implications:
- Counseling families with a history of Pena-Shokeir syndrome requires consideration of variable arthrogryposis onset.
- Prenatal diagnostic strategies may need to account for this developmental variability.
- Further research into the genetic and developmental factors influencing Pena-Shokeir syndrome onset is warranted.