Skeletal muscular changes in Pena-Shokeir sequence.
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.
Reiser
P
P
Institute of Pathology, University of Zurich, Switzerland.
Briner
J
J
Schinzel
A
A
D001724:Birth Weight; D001827:Body Height; D005145:Face / Q000002:abnormalities*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D007231:Infant, Newborn; D008168:Lung / Q000002:abnormalities*; D008297:Male; D009132:Muscles / Q000473:pathology*; D013577:Syndrome