[Multiple pterygium syndrome].
The authors relate about a non sporadic case of "Multiple pterygium syndrome" in a child born to consanguineous parents. Clinical features of the syndrome are: short stature, articular contractures, pterygia of the neck, axillae, elbows, facial anomalies, vertebral malformation, mental retardation. The syndrome, delineated as a distinct entity by Escobar, is a rare autosomal recessive disorder with a clinical heterogeneity, which is included within the "Arthrogryposis syndromes".
D000015:Abnormalities, Multiple; D001176:Arthrogryposis; D002648:Child; D005260:Female; D006801:Humans; D010375:Pedigree; D011625:Pterygium; D013577:Syndrome; D009626:Terminology as Topic
La sindrome degli pterigi multipli.