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PubMed · 3601719

[Multiple pterygium syndrome].

C Anichini·D Tomaccini·R Scarinci·R Vivarelli
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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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Abnormalities, MultipleArthrogryposisChildFemaleHumansPedigreePterygiumSyndromeTerminology as TopicCase ReportsEnglish AbstractJournal Article

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C Anichini, D Tomaccini, R Scarinci, R Vivarelli. [Multiple pterygium syndrome].. https://pubmed.ncbi.nlm.nih.gov/3601719/

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