Auralcephalosyndactyly: a new craniosynostosis syndrome or a variant of the Saethre-Chotzen syndrome?
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.
Legius
E
E
Centre for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
Van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000235:genetics; D000168:Acrocephalosyndactylia / Q000175:diagnosis* / Q000235:genetics; D000328:Adult; D002871:Chromosome Banding; D003398:Craniosynostoses / Q000175:diagnosis* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D005532:Foot Deformities, Congenital; D005799:Genes, Dominant; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D013577:Syndrome