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Noonan syndrome due to a SHOC2 mutation presenting with fetal distress and fatal hypertrophic cardiomyopathy in a premature infant.
Hoban R, Roberts AE, Demmer L, Jethva R, Shephard B. Hoban R, et al. Am J Med Genet A. 2012 Jun;158A(6):1411-3. doi: 10.1002/ajmg.a.35318. Epub 2012 Apr 23. Am J Med Genet A. 2012. PMID: 22528146
We report on a patient with Noonan syndrome due to SHOC2 missense mutation predicting p.Ser2Gly, recently described in association with Noonan syndrome. The male infant presented with fetal distress requiring premature delivery at 32 week …
We report on a patient with Noonan syndrome due to SHOC2 missense mutation predicting p.Ser2Gly, recently described in associa …
Perinatal features of the RASopathies: Noonan syndrome, cardiofaciocutaneous syndrome and Costello syndrome.
Myers A, Bernstein JA, Brennan ML, Curry C, Esplin ED, Fisher J, Homeyer M, Manning MA, Muller EA, Niemi AK, Seaver LH, Hintz SR, Hudgins L. Myers A, et al. Am J Med Genet A. 2014 Nov;164A(11):2814-21. doi: 10.1002/ajmg.a.36737. Epub 2014 Sep 22. Am J Med Genet A. 2014. PMID: 25250515 Review.
We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome (CFCS) and three with Costello syndrome (CS), in conjunction with the results of a comprehensive literature review. The majority o …
We report on the perinatal presentation of 10 patients with Noonan syndrome (NS), nine with Cardiofaciocutaneous syndrome …
Pulmonary lymphangiectasia revisited.
Bouchard S, Di Lorenzo M, Youssef S, Simard P, Lapierre JG. Bouchard S, et al. J Pediatr Surg. 2000 May;35(5):796-800. doi: 10.1053/jpsu.2000.6086. J Pediatr Surg. 2000. PMID: 10813353
Among survivors, the symptomatology and frequency of admissions diminished over time. Symptoms included progressive respiratory distress, chronic cough, recurrent pneumonia, bronchial asthma, and choking. One child with bilateral chylothorax was later diagnosed with Noo …
Among survivors, the symptomatology and frequency of admissions diminished over time. Symptoms included progressive respiratory distress …
Progression of nonimmune hydrops in a fetus with Noonan syndrome.
Katz VL, Kort B, Watson WJ. Katz VL, et al. Am J Perinatol. 1993 Nov;10(6):417-8. doi: 10.1055/s-2007-994620. Am J Perinatol. 1993. PMID: 8267802
Presented is a case of nonimmune hydrops caused by Noonan syndrome. This autosomal dominant disorder, with an incidence of 1 in 1000 births, is manifested by trunk and limb edema, lymphatic abnormalities, webbed neck, short stature, and cardiac and genital anomalies …
Presented is a case of nonimmune hydrops caused by Noonan syndrome. This autosomal dominant disorder, with an incidence of 1 i …
[Neonatal chylothorax with trisomy 21].
Miera O, Mildenberger E, van Baalen A, Fuhr N. Miera O, et al. Z Geburtshilfe Neonatol. 2004 Feb;208(1):29-31. doi: 10.1055/s-2004-815520. Z Geburtshilfe Neonatol. 2004. PMID: 15039889 German.
Neonatal chylothorax is an uncommon cause of respiratory distress in the newborn. It may result from anomalous lymph drainage with or without association with aneuploidy syndromes (trisomy, Turner's syndrome, Noonan's syndrome), from injury to the thor …
Neonatal chylothorax is an uncommon cause of respiratory distress in the newborn. It may result from anomalous lymph drainage with or …
Use of terbutaline in the treatment of complete heart block in the fetus.
Robinson BV, Ettedgui JA, Sherman FS. Robinson BV, et al. Cardiol Young. 2001 Nov;11(6):683-6. doi: 10.1017/s1047951101001123. Cardiol Young. 2001. PMID: 11813927
Between 1989 and 2000, 21 fetuses were diagnosed with complete atrioventricular block. Seven women with fetal ventricular rates of less than 60 were given oral terbutaline, and 6 of these had an initial increase in the fetal ventricular rate. ...Terbutaline, therefo …
Between 1989 and 2000, 21 fetuses were diagnosed with complete atrioventricular block. Seven women with fetal ventricular rates of le …
[Emergency thoraco amniotic shunting in cases with compressive pleural effusion with hydrops: A retrospective study of 60 cases].
Picone O, Benachi A, Mandelbrot L, Ruano R, Dumez Y, Dommergues M. Picone O, et al. J Gynecol Obstet Biol Reprod (Paris). 2006 Nov;35(7):652-7. doi: 10.1016/s0368-2315(06)76459-6. J Gynecol Obstet Biol Reprod (Paris). 2006. PMID: 17088764 Free article. French.
OBJECTIVES: To study perinatal outcome following thoraco-amniotic shunting for fetal pleural effusions with hydrops. MATERIALS AND METHODS: Retrospective study (1984-2004) to evaluate a policy of emergency thracoamniotic shunting in hydropic fetuses with suspected chylotho …
OBJECTIVES: To study perinatal outcome following thoraco-amniotic shunting for fetal pleural effusions with hydrops. MATERIALS AND ME …