Year: 1990
Type: article
Study design: Case Report
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.
Source: Journal of Perinatal Medicine
Authors: Peter Reiser, Jakob Briner, Albert Schinzel
Institution: University of Zurich
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W2027850689