Auralcephalosyndactyly: a new hereditary craniosynostosis syndrome

A family is described in which craniosynostosis is associated with characteristic pinnae, a short columella, and symmetrical syndactyly of the fourth and fifth toes, inherited as an autosomal dominant condition. Various dominantly inherited syndromes involving craniosynostosis have been identified,...

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Bibliographic Details
Published inJournal of medical genetics Vol. 25; no. 7; pp. 491 - 493
Main Authors Kurczynski, T W, Casperson, S M
Format Journal Article
LanguageEnglish
Published London BMJ Publishing Group Ltd 01.07.1988
BMJ
BMJ Publishing Group LTD
Subjects
Biological and medical sciences
Complex syndromes
Craniosynostoses - genetics
Craniosynostosis
Ear, External - abnormalities
Facial Bones - abnormalities
Female
Humans
Infant, Newborn
Medical genetics
Medical sciences
Pedigree
Research Article
Skull - abnormalities
Syndactyly
Syndactyly - genetics
Syndrome
Human
Pinna
Nervous system diseases
Family study
Malformation
Craniosynostosis
Nose
Diseases of the osteoarticular system
Syndactyly
Skull
ENT disease
Complex syndrome
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Summary:A family is described in which craniosynostosis is associated with characteristic pinnae, a short columella, and symmetrical syndactyly of the fourth and fifth toes, inherited as an autosomal dominant condition. Various dominantly inherited syndromes involving craniosynostosis have been identified, but the constellation of findings in this family suggests a new syndrome different from those previously described.
Bibliography:href:jmedgenet-25-491.pdf
PMID:2845086
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ObjectType-Case Study-2
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ISSN:0022-2593
1468-6244
1468-6244
DOI:10.1136/jmg.25.7.491