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Tibial agenesis-ectrodactyly syndrome associated with novel cardiovascular and bronchopulmonary malformations.

Authors
Type
Published Article
Journal
Clinical Dysmorphology
0962-8827
Publisher
Ovid Technologies (Wolters Kluwer) - Lippincott Williams & Wilkins
Publication Date
Volume
16
Issue
1
Pages
47–49
Identifiers
PMID: 17159515
Source
Medline
License
Unknown

Abstract

We report a 9-month-old female infant presenting, on the 15th day of life, left tibial agenesis with ectrodactyly, right talipes equinovarus, syndactyly of the second and the third toes of the right foot, an incomplete split right foot, left fibular hypoplasia, bronchial stenosis/hypoplasia, and coarctation of the aortic arch. To the best of our knowledge, coarctation of the aortic arch and bronchial stenosis/hypoplasia have never been reported in the tibial agenesis-ectrodactyly syndrome.

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