Fryns syndrome

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, c...

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Veröffentlicht in:	American journal of medical genetics 1993-03, Vol.45 (5), p.562-564
Hauptverfasser:	Stratton, Robert F., Young, Robert S., Heiman, Howard S., Carter, Jan M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Biological and medical sciences bronchomalacia camptodactyly case reports cleft lip Cleft Lip - genetics cleft lip/palate Complex syndromes Diaphragm - abnormalities diaphragm eventration duodenal atresia Face - abnormalities Female Fingers - abnormalities Fryns syndrome Genes, Lethal Genes, Recessive Humans Infant, Newborn Lung - abnormalities man Medical genetics Medical sciences Syndrome Tetralogy of Fallot Tetralogy of Fallot - genetics tracheomalacia
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Beschreibung
Zusammenfassung:	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. © 1993 Wiley‐Liss, Inc.
ISSN:	0148-7299 1096-8628
DOI:	10.1002/ajmg.1320450507