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Skeletal muscular changes in Pena-Shokeir sequence
P Reiser1, J Briner, A Schinzel
1Institute of Pathology, University of Zurich, Switzerland.
Abstract:
Histologic examination of the skeletal muscles in 8 fetuses and newborn patients with the Pena-Shokeir sequence revealed only minor nonspecific changes which could not be ascribed to any of the well defined myopathies. Muscle fiber diameters were increased in 2 out of 5 patients examined. No significant malformations of inner organs were found at autopsy. It is concluded that fetal hypokinesia due to skeletal muscular lesions might be responsible for both the pulmonary hypoplasia and the deformations of the face and extremities in all cases of this investigation.
Insights
Pena-Shokeir sequence in fetuses and newborns showed minor muscle changes, not specific myopathies. Fetal hypokinesia from skeletal muscle issues may cause pulmonary hypoplasia and limb deformities.
Area of Science:
- Medical science
- Pathology
- Developmental biology
Background:
- Pena-Shokeir sequence is a congenital disorder characterized by joint contractures, facial anomalies, and pulmonary hypoplasia.
- The underlying cause of Pena-Shokeir sequence, particularly the role of skeletal muscle, remains unclear.
Observation:
- Histologic examination of skeletal muscles from 8 fetuses and newborns with Pena-Shokeir sequence was performed.
- Minor, nonspecific changes were noted, insufficient to diagnose specific myopathies.
- Increased muscle fiber diameters were observed in 2 of 5 examined patients.
Findings:
- Skeletal muscle lesions in Pena-Shokeir sequence are subtle and not indicative of known myopathies.
- No significant internal organ malformations were detected via autopsy.
- Increased muscle fiber diameter suggests potential muscular involvement.
Implications:
- Fetal hypokinesia, stemming from skeletal muscle abnormalities, is proposed as the cause of pulmonary hypoplasia.
- This fetal hypokinesia may also contribute to the characteristic facial and extremity deformities seen in Pena-Shokeir sequence.
- Further research into fetal movement disorders and skeletal muscle development is warranted.