Published Date: November 1, 1986
Multiple pterygium syndrome
Authors: C Anichini, D Tomaccini, R Scarinci, R Vivarelli
Pediatr Med Chir. 1986 Nov-Dec;8(6):881-4.
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".