Case Reports
[Multiple pterygium syndrome]
[Article in
Italian]
- PMID: 3601719
Item in Clipboard
Case Reports
[Multiple pterygium syndrome]
[Article in
Italian]
Pediatr Med Chir.
1986 Nov-Dec.
Abstract
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".
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