American Journal of Medical Genetics · 1993 · 23 citations · 15 references
MedicinePediatricsNeonatologyCongenital AnomaliesCongenital Craniofacial AnomaliesCongenital Lung MalformationsCongenital Organ DefectsCongenital Thoracic AnomaliesPediatric Airway DisordersBronchial AtresiaCongenital Diaphragm AbnormalitiesCongenital Diaphragmatic EventrationCongenital Digestive AnomaliesDuodenal AnatomyDuodenal AtresiaEtiology Of Congenital AnomaliesTracheal Anomalies
We report on a premature female infant with Fryns syndrome who had several less commonly reported anomalies. She had bilateral posterior eventration of the hemidiaphragms instead of the usual diaphragmatic defects with visceral herniation into the chest cavity. She also had a unilateral cleft lip, camptodactyly, duodenal atresia, tracheomalacia, bronchomalacia, and Tetralogy of Fallot.
15
A new lethal syndrome with cloudy corneae, diaphragmatic defects and distal limb deformities
J. P. Fryns, F. Moerman, P. Goddeeris et al. · Human Genetics · 1979 · 159 citations
Medicine, Ophthalmology, Surgery +9