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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.

Topics

Abnormalities, Multiple
Adult
Aged
Arthrogryposis
Contracture
Face
Genes, Dominant
Hirsutism
Humans
Hypesthesia
Male
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscles

Neuromuscular Diseases

Pedigree

Phenotype

Source

Identifiers

PMID: 1481843
DOI: 10.1002/ajmg.1320440609

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1481843-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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