Craniosynostosis suggestive of Saethre-Chotzen syndrome: Clinical description of a large kindred and exclusion of candidate regions on 7p

Steven Von Gernet, Simone Schuffenhauer, Astrid Golla, Peter Lichtner, Stefanie Balg, Wolfgang Mühlbauer, Jan Murken, Jeffrey Fairley, Thomas Meitinger

Publikation: Beitrag in FachzeitschriftArtikelBegutachtung

16 Zitate (Scopus)

Abstract

We decribe the clinical manifestations of an autosomal dominant form of craniosynostosis in a large family with eight affected relatives. Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the diagnosis of Saethre-Chotzen syndrome. The disease locus was excluded from the two adjacent Saethre-Chotzen candidate regions on 7p by linkage analysis with markers D7S664 and D7S507. This indicates heterogeneity of Saethre-Chotzen syndrome with a locus outside the candidate regions on 7p.

OriginalspracheEnglisch
Seiten (von - bis)177-184
Seitenumfang8
FachzeitschriftAmerican Journal of Medical Genetics
Jahrgang63
Ausgabenummer1
DOIs
PublikationsstatusVeröffentlicht - 3 Mai 1996
Extern publiziertJa

Fingerprint

Untersuchen Sie die Forschungsthemen von „Craniosynostosis suggestive of Saethre-Chotzen syndrome: Clinical description of a large kindred and exclusion of candidate regions on 7p“. Zusammen bilden sie einen einzigartigen Fingerprint.

Dieses zitieren