Second-trimester diagnosis of complete trisomy 9 associated with abnormal maternal serum screen results, open sacralspina bifida and congenital diaphragmatic hernia, and review of the literature

2004 ◽  
Vol 24 (6) ◽  
pp. 455-462 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Sho-Jen Cheng ◽  
Tung-Yao Chang ◽  
Li-Fan Yeh ◽  
...  
Keyword(s):  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Maternal Serum ◽  
Second Trimester ◽  
Review Of The Literature ◽  
Trisomy 9

scholarly journals Late-presenting congenital diaphragmatic hernia in an infant with tuberous sclerosis – case report and a review of the literature

2020 ◽  
Vol 95 (1) ◽  
pp. 44-47
Author(s):  
Marta Komarowska ◽  
Ewa Matuszczak ◽  
Marcin Baran ◽  
Ewa Dzienis-Koronkiewicz ◽  
Adam Hermanowicz ◽  
...  
Keyword(s):  
Case Report ◽  
Congenital Diaphragmatic Hernia ◽  
Tuberous Sclerosis ◽  
Diaphragmatic Hernia ◽  
Review Of The Literature

Familial case of Fryns syndrome in two fetuses in second trimester

2018 ◽  
Author(s):  
I.V. Novikova, S.I. Kovalev, E.I. Marakhovskaya
Keyword(s):  
Congenital Anomaly ◽  
Family History ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Autosomal Recessive ◽  
Second Trimester ◽  
Multiple Congenital Anomaly ◽  
Distal Limb ◽  
Limb Deformity ◽  
Recessive Defect

Fryns syndrome (FS) is a multiple congenital anomaly syndrome, inherited as an autosomal recessive defect with diagnostic triad including diaphragmatic hernia, abnormal face, and distal limb anomalies. Two cases of FS in the fetuses, whose mother had previous affected pregnancy with the infant having diaphragmatic hernia are presented. Both fetuses have atypical limb deformity, ectrodactyly. These cases illustrate the spectrum of FS and the importance of a family history in fetuses with congenital diaphragmatic hernia.

scholarly journals Hepatopulmonary fusion associated with right-sided congenital diaphragmatic hernia: management of this rare anomaly and a review of the literature

2018 ◽  
Vol 46 (12) ◽  
pp. 5278-5284 ◽  
Author(s):  
Hamdi H. Almaramhy
Keyword(s):  
Respiratory Distress ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Search Engines ◽  
English Literature ◽  
Relevant Literature ◽  
Review Of The Literature ◽  
Operative Repair ◽  
Rare Anomaly ◽  
Rare Malformation

Hepatopulmonary fusion is a rare malformation that is often discovered during operative repair of right-sided congenital diaphragmatic defects. Based on a search using medical search engines, we only found 22 cases of hepatopulmonary fusion in the English literature worldwide to date. We describe herein a case of hepatopulmonary fusion with right-sided congenital diaphragmatic hernia in a female neonate who presented with respiratory distress. We discuss management of this case and review the relevant literature.

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