Two cases of fetal akinesia/hypokinesia sequence.
Two cases of fetal akinesia sequence are described. Both showed facial anomalies, arthrogryposis multiplex, bilateral camptodactyly, and pulmonary hypoplasia. One child had degeneration of large motor neurons of the thoracolumbosacral spinal cord and irregular atrophy of diaphragm; the other had left microphthalmia, hemiatrophy of the left temporal lobe with calcification of degenerated neurons, and hypoplasia of the cervothoracic spinal cord with decrease and degeneration of neurons. The iliopsoas and intercostal muscles showed focal myofiber atrophy. These findings suggested that some instances of this fetal akinesia syndrome might be due to neuromuscular dysfunction that occurred in utero and may have various causes.
Itoh
K
K
Department of Pediatrics, Takatsuki General Hospital, Osaka, Japan.
Yokoyama
N
N
Ishihara
A
A
Kawai
S
S
Takada
S
S
Nishino
M
M
Lee
Y
Y
Negishi
H
H
Itoh
H
H
D000015:Abnormalities, Multiple; D001176:Arthrogryposis; D002102:Cadaver; 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; D009420:Nervous System / Q000473:pathology; D009468:Neuromuscular Diseases / Q000473:pathology; D013577:Syndrome; D014781:Viscera / Q000473:pathology