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Cleidocranial Dysostosis, Severe Micrognathism, Bilateral Absence of Thumbs and First Metatarsal Bone, and Distal Aphalangia: A New Genetic Syndrome

Cleidocranial Dysostosis, Severe Micrognathism, Bilateral Absence of Thumbs and First Metatarsal... Abstract • Five patients from three families have a new genetic syndrome. The features include cleidocranial dysostosis, bilateral absence of the thumbs and of the distal phalanges of the fingers, hypoplasia of the first metatarsus, absence of the distal phalanx and hypoplasia of the proximal phalanx of the big toe, pelvic dysplasia, bilateral hip dislocation, a constant facial dysmorphism with sparse hair, peculiar ears, severe micrognathism, and retracted and poorly delineated lips. The existence of consanguinity in two of the families, both with two affected siblings, as well as the lack of sex predilection, allow us to postulate that this syndrome is inherited in a recessive manner. (Am J Dis Child 134:649-653, 1980) References 1. Jarvis JL, Keats TE: Cleidocranial dysostosis: A review of 40 new cases . Am J Roentgenol 121:5-16, 1974.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Diseases of Children American Medical Association

Cleidocranial Dysostosis, Severe Micrognathism, Bilateral Absence of Thumbs and First Metatarsal Bone, and Distal Aphalangia: A New Genetic Syndrome

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Publisher
American Medical Association
Copyright
Copyright © 1980 American Medical Association. All Rights Reserved.
ISSN
0002-922X
DOI
10.1001/archpedi.1980.02130190017005
Publisher site
See Article on Publisher Site

Abstract

Abstract • Five patients from three families have a new genetic syndrome. The features include cleidocranial dysostosis, bilateral absence of the thumbs and of the distal phalanges of the fingers, hypoplasia of the first metatarsus, absence of the distal phalanx and hypoplasia of the proximal phalanx of the big toe, pelvic dysplasia, bilateral hip dislocation, a constant facial dysmorphism with sparse hair, peculiar ears, severe micrognathism, and retracted and poorly delineated lips. The existence of consanguinity in two of the families, both with two affected siblings, as well as the lack of sex predilection, allow us to postulate that this syndrome is inherited in a recessive manner. (Am J Dis Child 134:649-653, 1980) References 1. Jarvis JL, Keats TE: Cleidocranial dysostosis: A review of 40 new cases . Am J Roentgenol 121:5-16, 1974.Crossref

Journal

American Journal of Diseases of ChildrenAmerican Medical Association

Published: Jul 1, 1980

References