scholarly journals Antenatal diagnosis of oesophageal atresia with tracheoesophageal fistula with upper neck pouch sign-A radiological study

2016 ◽  
Vol 4 (9) ◽  
pp. 1636-1640
Author(s):  
Dr. Sangeeta Saxena ◽  
◽  
Dr. Radhey Sankhala ◽  
Dr. Dharmraj Meena ◽  
Dr. Aditya Ganeriwala ◽  
...  
2019 ◽  
Vol 54 (2) ◽  
pp. 244-246
Author(s):  
Andrea Thompson ◽  
Hemanshoo Thakkar ◽  
Hammad Khan ◽  
Iain E. Yardley

2019 ◽  
Vol 12 (8) ◽  
pp. e229831 ◽  
Author(s):  
Joana Brandão Silva ◽  
Diana Soares ◽  
Miguel Leão ◽  
Helena Santos

Mandibulofacial dysostosis with microcephaly (MFDM) is a rare condition that causes abnormalities of the head and face. Other major extracranial malformations may also be found. The authors present a case of an MFDM in a 35 weeks newborn with antenatal growth restriction. The patient required resuscitation at birth and was diagnosed with oesophageal atresia with tracheoesophageal fistula at day 1. At physical examination he presented multiple congenital malformations including prominent forehead, plagiocephaly, low-set ears, malformed auricles, hypertelorism, downward-slanting eyes, micrognathia, everted lower lip, short neck, wide-spaced nipples and inguinal hernia. Imaging investigation showed dysplasia of the inner ear with agenesis of the vestibular–cochlear nerves and global cerebral atrophy. Analysis of the EFTUD2 gene revealed that the patient was a heterozygous carrier of a pathogenic mutation (c.831_832del[p.Lys277Asnsf*7]), which has not been previously described. This case illustrates the challenges faced in diagnosing and treating MFDM patients.


2013 ◽  
Vol 10 (4) ◽  
pp. 320
Author(s):  
Minu Bajpai ◽  
V Bhatnagar ◽  
Sandeep Agarwala ◽  
M Srinivas ◽  
Nitin Sharma ◽  
...  

1987 ◽  
Vol 8 (2) ◽  
pp. 142-142
Author(s):  
R. F. Bury ◽  
D. C. Evans ◽  
A. R. Divers ◽  
M. J. Trewhella

2014 ◽  
Vol 57 (1) ◽  
pp. 40-43 ◽  
Author(s):  
Robert Smigiel ◽  
Carlo Marcelis ◽  
Dariusz Patkowski ◽  
Nicole de Leeuw ◽  
Damian Bednarczyk ◽  
...  

2011 ◽  
Vol 97 (6) ◽  
pp. 513-513 ◽  
Author(s):  
Partap Singh Yadav ◽  
Nitin Pant ◽  
Rajiv Chadha ◽  
Subhashis Roy Choudhury

2011 ◽  
Vol 8 (2) ◽  
pp. 244 ◽  
Author(s):  
Vishesh Jain ◽  
SubhasisR Choudhury ◽  
Prashant Jain ◽  
PinakiR Debnath ◽  
Rajiv Chadha ◽  
...  

2016 ◽  
Vol 24 (12) ◽  
pp. 1715-1723 ◽  
Author(s):  
Erwin Brosens ◽  
Florian Marsch ◽  
Elisabeth M de Jong ◽  
Hitisha P Zaveri ◽  
Alina C Hilger ◽  
...  

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