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[Multiple pterygium syndrome].

作者信息

Anichini C, Tomaccini D, Scarinci R, Vivarelli R

出版信息

Pediatr Med Chir. 1986 Nov-Dec;8(6):881-4.

PMID:3601719
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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