Fryns syndrome in children with congenital diaphragmatic hernia
| Autor: | Max R. Langham, Ronald B. Hirschl, William D. Hardin, Holly L. Neville, Kevin P. Lally, Jay M. Wilson, Pamela A. Lally, Tom Jaksic |
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| Rok vydání: | 2002 |
| Předmět: |
Heart Defects
Congenital Male Pediatrics medicine.medical_specialty Genetic counseling Diaphragmatic breathing Genetic Counseling Comorbidity Fryns syndrome Medicine Humans Hernia Abnormalities Multiple Neural Tube Defects Survival rate Tetralogy of Fallot Retrospective Studies Hernia Diaphragmatic business.industry Mortality rate Infant Newborn Congenital diaphragmatic hernia General Medicine Syndrome medicine.disease Prognosis Survival Rate Pediatrics Perinatology and Child Health Surgery Female business Hernias Diaphragmatic Congenital Hernia Umbilical |
| Zdroj: | Journal of pediatric surgery. 37(12) |
| ISSN: | 1531-5037 |
| Popis: | Purpose Fryns syndrome is characterized by multiple congenital anomalies including Congenital Diaphragmatic Hernia (CDH), and has a reported poor prognosis with a survival rate during the neonatal period of approximately 15%. This report details the management and outcome of patients with Fryns syndrome and CDH. Methods Records of all liveborn patients with CDH between 1995 and 2001 in 83 hospitals were entered into the CDH database. Those with Fryns syndrome were reviewed retrospectively. Results A total of 1,833 patients were entered in the database, 23 of these had Fryns (1.3%). All patients experienced early distress requiring intubation. Ten patients (43%) were found to have other major anomalies. Seven patients underwent surgical repair at an average age of 7.5 days (range, 6 hours to 14 days). Mortality rate was 83% compared with 33% of patients with unilateral CDH (P =.01). Ten patients died within the first 24 hours. The parents of 6 patients withdrew support. Of the 4 survivors, 3 have marked developmental delay, whereas the fourth has not yet undergone formal assessment. Conclusions The prognosis of infants with Fryns syndrome and congenital diaphragmatic hernia remains grim. Early genetic counseling and recognition of lethal anomalies may assist in determining which patients may survive. |
| Databáze: | OpenAIRE |
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