Tibial agenesis-ectrodactyly syndrome associated with novel cardiovascular and bronchopulmonary malformations.
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.
Lee
Meng-Luen
ML
Division of Pediatric Cardiology, Department of Pediatrics Center for Medical Genetics and Department of Obstetrics and Gynecology, Changhua Christian Hospital, Changhua Departments of Medical Genetics Obstetrics and Gynecology, College of Medicine and Hospital, National Taiwan University, Taipei, Taiwan.
Chen
Ming
M
D000015:Abnormalities, Multiple / Q000473:pathology*; D001017:Aortic Coarctation / Q000473:pathology; D003025:Clubfoot / Q000473:pathology; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D015619:Respiratory System Abnormalities / Q000473:pathology; D013577:Syndrome