A family with the Saethre-Chotzen syndrome

E. Bianchi, M. Arico, A. F. Podesta, M. Grana, P. Fiori, G. Beluffi

Research output: Contribution to journalArticle

8 Citations (Scopus)

Abstract

Acrocephalosyndactyly (ACS) is an inherited syndrome of premature synostosis of the cranial sutures and abnormalities in the distal segments of the limbs. Several forms of ACS have been described. ACS type III (or Saethre-Chotzen syndrome) is characterized by microcephaly, skull asymmetry, mild syndactyly, and facial abnormalities. We describe an Italian family with ACS III in which two sibs are clearly affected; the mother and the maternal grandmother show some features of the syndrome.

Original languageEnglish
Pages (from-to)649-658
Number of pages10
JournalAmerican Journal of Medical Genetics
Volume22
Issue number4
DOIs
Publication statusPublished - 1985

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Acrocephalosyndactylia
Cranial Sutures
Mothers
Synostosis
Syndactyly
Microcephaly
Skull
Extremities

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Bianchi, E., Arico, M., Podesta, A. F., Grana, M., Fiori, P., & Beluffi, G. (1985). A family with the Saethre-Chotzen syndrome. American Journal of Medical Genetics, 22(4), 649-658. https://doi.org/10.1002/ajmg.1320220402

A family with the Saethre-Chotzen syndrome. / Bianchi, E.; Arico, M.; Podesta, A. F.; Grana, M.; Fiori, P.; Beluffi, G.

In: American Journal of Medical Genetics, Vol. 22, No. 4, 1985, p. 649-658.

Research output: Contribution to journalArticle

Bianchi, E, Arico, M, Podesta, AF, Grana, M, Fiori, P & Beluffi, G 1985, 'A family with the Saethre-Chotzen syndrome', American Journal of Medical Genetics, vol. 22, no. 4, pp. 649-658. https://doi.org/10.1002/ajmg.1320220402
Bianchi, E. ; Arico, M. ; Podesta, A. F. ; Grana, M. ; Fiori, P. ; Beluffi, G. / A family with the Saethre-Chotzen syndrome. In: American Journal of Medical Genetics. 1985 ; Vol. 22, No. 4. pp. 649-658.
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