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PubMed2007

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.

Abnormalities, Multiple↗
PubMed1991

Radiographic manifestations of congenital anomalies affecting the airway.

Congenital anomalies of the airway are generally uncommon, but a vast array of possibilities exists. Some present life-threatening emergencies at birth, and others go undiagnosed for years. Clinical symptoms are often nonspecific, and radiographic evaluation is frequently requested to localize and characterize the lesion before endoscopy, surgery, or medical management. The most common intrinsic congenital anomalies causing airway compromise in infants include choanal atresia, mandibular hypoplasia, laryngomalacia, vocal cord paralysis, and congenital subglottic stenosis. The radiologist must be on the alert for unsuspected additional anomalies involving the airway, lungs, and esophagus, which occur with relative frequency. Numerous extrinsic congenital masses of the head, neck, and mediastinum may compromise the airway. Hemangiomas, lymphangiomas, and teratomas are more likely to be noted at birth, whereas branchial cleft cysts, thyroglossal duct anomalies, and dermoid cysts frequently present later. Mass location and radiographic characteristics usually allow accurate preoperative diagnosis. Intracranial involvement by nasal or nasopharyngeal masses, intrathoracic involvement by lower neck mass, and intraspinal involvement by posterior neck mass must always be sought for radiographically. Persistence of respiratory symptoms after removal of such masses is not uncommon because tracheal deformity and laxity may take months or years to resolve. Recent advances in cine CT and MR imaging promise to improve imaging of the airway in general and in the pediatric population in particular. Significant limitations in imaging of the pediatric larynx remain. As a result, endoscopy continues to be the primary diagnostic tool for airway anomalies of this region.

Head and Neck Neoplasms↗
PubMed1986

Congenital heart disease and extracardiac anomalies: associations and indications for fetal echocardiography.

Fetal echocardiography is a well-established technique for the prenatal identification of congenital heart disease. One of the indications for its use is the presence of extracardiac anomalies, as such coexistent defects may have important implications for obstetric and neonatal management. We have reviewed the obstetric and pediatric literature to examine reported associations. If a fetus is suspected to have hydrocephalus, microcephaly, holoprosencephaly, agenesis of the corpus callosum, Meckel-Gruber syndrome, esophageal atresia, duodenal atresia, diaphragmatic hernia, omphalocele, or renal dysplasia, cardiac evaluation should be pursued. Furthermore, echocardiography may be of help in differential diagnosis of some anomalies (for instance, skeletal dysplasias). Maternal diabetes and phenylketonuria, as well as exposure to phenytoin, trimethadione, or isotretinoin, may result in multiple systemic defects, including congenital heart disease.

Abdominal Muscles↗