Abstract |
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.
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Authors | R F Stratton, R S Young, H S Heiman, J M Carter |
Journal | American journal of medical genetics
(Am J Med Genet)
Vol. 45
Issue 5
Pg. 562-4
(Mar 01 1993)
ISSN: 0148-7299 [Print] United States |
PMID | 8456824
(Publication Type: Case Reports, Journal Article)
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Topics |
- Abnormalities, Multiple
(genetics)
- Cleft Lip
(genetics)
- Diaphragm
(abnormalities)
- Face
(abnormalities)
- Female
- Fingers
(abnormalities)
- Genes, Lethal
- Genes, Recessive
- Humans
- Infant, Newborn
- Lung
(abnormalities)
- Syndrome
- Tetralogy of Fallot
(genetics)
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