The syndrome of multiple ankyloses and facial anomalies. A neuropathologic analysis.
An infant with the clinical syndrome of multiple joint ankyloses and facial anomalies was examined at autopsy. Neuropathologic analysis disclosed reduced numbers of spinal motor neurons and denervation atrophy of skeletal muscle as the basis for joint ankyloses. A comparison of the neuropathologic findings in this case to those to other clinically similar cases reported recently confirms that the phenotype is not specific, and occurs in a variety of neuro-muscular diseases only some of which are likely to be inherited as an autosomal recessive trait. Diagnostic evaluation of these disorders should include both chromosomal analysis and confirmation of the underlying pathologic process.
D000844:Ankylosis / Q000175:diagnosis* / Q000473:pathology; D001176:Arthrogryposis / Q000175:diagnosis*; D001344:Autopsy; D005145:Face / Q000002:abnormalities*; D006801:Humans; D007223:Infant; D008297:Male; D009046:Motor Neurons / Q000473:pathology; D009133:Muscular Atrophy / Q000473:pathology; D013131:Spine / Q000473:pathology; D013577:Syndrome