Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?. Issue 8 (August 1989)

• Record Type: Journal Article
• Authors: Legius, E; Fryns, J P; Van den Berghe, H
• Is Part Of: Journal of medical genetics. Volume 26:Issue 8(1989)
• Page Start: 522
• Page End: 524
• Publication Date: 1989-08
• Subjects: Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmg.26.8.522
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : A mother and son are reported with bilateral, symmetrical syndactyly of the third, fourth, and fifth toes, mild craniosynostosis of the coronary sutures, and small pinnae. The same combination of malformations was recently described as a new syndrome by Kurczynsky and Casperson in a mother and her daughter. In addition, in the present family, the mother had fusion of two cervical vertebrae and a partial duplication of the first metatarsal. The child had a bilateral cleft lip and palate. The question is raised whether these patients represent a new syndrome or a variant of the Saethre-Chotzen syndrome.