Congenital diaphragmatic hernia, coarse facies, and acral hypoplasia: Fryns syndrome
| Autor: | Claire O. Leonard, David Chitayat, John M. Opitz, Jan M. Friedman, J. Stephen Bamforth, Jane A. Evans, Tapio Pantzar, Bernard N. Chodirker, B. Keena, Judith G. Hall, James F. Reynolds, Hilda L. Gritter |
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| Rok vydání: | 1989 |
| Předmět: |
Male
Pediatrics medicine.medical_specialty Limb Deformities Congenital Diaphragmatic breathing Genes Recessive Fryns syndrome Intellectual Disability Prenatal Diagnosis medicine Humans Diaphragmatic hernia Abnormalities Multiple Genetics (clinical) Ultrasonography Omphalocele Autosomal recessive inheritance business.industry Infant Newborn Congenital diaphragmatic hernia Syndrome medicine.disease Hypoplasia Facial Expression Macrostomia Female business Hernias Diaphragmatic Congenital |
| Zdroj: | American journal of medical genetics. 32(1) |
| ISSN: | 0148-7299 |
| Popis: | We describe five patients with Fryns syndrome. Four presented with diaphragmatic hernia and died in the neonatal period. One did not have diaphragmatic involvement and survived but is severely mentally retarded. All patients had "coarse" faces, microretrognathia, macrostomia, and distal digital hypoplasia. In addition to previously reported traits, our patients had clinical manifestations that have not previously been described, including omphalocele, broad clavicles, Hirschsprung "disease," and anal anomalies. The condition was detected antenatally in three of the cases. The patients include two sib pairs, further supporting autosomal recessive inheritance. |
| Databáze: | OpenAIRE |
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