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Article

Arthrogryposis, ectodermal dysplasia and other anomalies in two sisters.

Genetic counseling (Geneva, Switzerland) - 1 Jan 1992

Stoll C, Alembik Y, Finck S, Janser B

Abstract excerpt

Ectodermal dysplasia with arthrogryposis is an uncommon condition. We describe two daughters of a distant consanguineous couple with oligodentia, enamel abnormalities, camptodactyly, longitudinally broken nails, growth retardation, joint contractures with amyotrophy, hypohidrotic skin with tendency to excessive bruising and scarring after injuries and scratching, kypho-scoliosis, mild facial dysmorphia and...

Topics

Adult
Arthrogryposis
Child
Chromosome Aberrations
Chromosome Disorders
Consanguinity
Ectodermal Dysplasia
Female
Genes, Recessive
Homozygote
Humans
Jaw, Edentulous, Partially

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 1590979

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1590979-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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