Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?
- 1 August 1989
- journal article
- case report
- Published by BMJ in Journal of Medical Genetics
- Vol. 26 (8) , 522-524
- https://doi.org/10.1136/jmg.26.8.522
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.Keywords
This publication has 4 references indexed in Scilit:
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- A family study of craniosynostosis, with probable recognition of a distinct syndrome.Journal of Medical Genetics, 1982
- The Saethre-Chotzen syndrome with partial bifid of the distal phalanges of the great toesHuman Genetics, 1980
- Saethre-Chotzen syndrome: A broad and variable pattern of skeletal malformationsThe Journal of Pediatrics, 1977