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Article

New hereditary malformation syndrome of unusual facial appearance, skeletal deformities, and musculoskeletal and sensory defects.

American journal of medical genetics - 1 Dec 1992

Middleton L T, Anastasiades V, Panayidou K, Georghiou D, Kalli E, Gabriel G, Myrianthopoulos N C

Abstract excerpt

We report on a new syndrome characterized by specific and striking facial abnormalities, arthrogrypotic skeletal deformities, and neuromuscular and sensory defects in a large Greek Cypriot family. The hereditary transmission appears to be autosomal dominant with quite variable expressivity.

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Identifiers

PMID: 1481843
DOI: 10.1002/ajmg.1320440609

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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