Absent tibiae-polydactyly-triphalangeal thumbs with fibular dimelia: Variable expression of the Werner (McKusick 188770) syndrome?

Absent tibiae-polydactyly-triphalangeal thumbs with fibular dimelia: Variable expression of the Werner (McKusick 188770) syndrome?

We report on a family in which the autosomal dominant Werner syndrome (WS) (MIM# 188770) affects ten members in three generations. Besides the absent tibiae the propositus had duplication of the fibulae. Possible pathogenetic mechanism is discussed. © 1995 Wiley‐Liss, Inc.

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Bibliographische Detailangaben
Veröffentlicht in:American journal of medical genetics 1995-01, Vol.55 (3), p.261-264
Hauptverfasser: Vargas, Fernando Regla, Pontes, Ricardo Lopes, Llerena Jr, Juan Clinton, de Almeida, Jose Carlos Cabral
Format: Artikel
Sprache:eng
Schlagworte:
Abnormalities, Multiple - genetics
absent tibiae
Adolescent
Adult
Biological and medical sciences
Bone and Bones - abnormalities
Complex syndromes
duplicated fibulae
Fibula - abnormalities
Genes, Dominant
Humans
Infant
Male
Medical genetics
Medical sciences
Pedigree
polydactyly
Polydactyly - genetics
Syndrome
Thumb - abnormalities
Tibia - abnormalities
tibiae
triphalangeal thumbs
Werner syndrome
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Beschreibung
Zusammenfassung:We report on a family in which the autosomal dominant Werner syndrome (WS) (MIM# 188770) affects ten members in three generations. Besides the absent tibiae the propositus had duplication of the fibulae. Possible pathogenetic mechanism is discussed. © 1995 Wiley‐Liss, Inc.
ISSN:0148-7299
1096-8628
DOI:10.1002/ajmg.1320550303