Jeune syndrome - asphyxiating thoracic dystrophy and its prenatal diagnosis: a rare case report

2015 ◽  
Vol 2 (1) ◽  
pp. 59
Author(s):  
Subash Majhi ◽  
Bobbity Deepthi ◽  
Sharmila Pradhan ◽  
Babita Ramani
Author(s):  
Senai Sereke ◽  
Anthony Oriekot ◽  
Felix Bongomin

An obstetric ultrasound of a multi-gravid mother at 37-week of gestation showed a female fetus with alobar holoprosencephaly, polydactyly, short ribs, narrow chest and short upper and lower extremity bones, consistent with Holoprosencephaly-polydactyly syndrome and Asphyxiating thoracic dystrophy overlap. Apgar score was 0 in the first and fifth minutes.


2012 ◽  
Vol 62 (3) ◽  
pp. 424-431 ◽  
Author(s):  
Deise Saletti ◽  
Thiago Ramos Grigio ◽  
Deoclecio Tonelli ◽  
Onésimo Duarte Ribeiro Júnior ◽  
Fabríccio Marini

Author(s):  
Nursen Toprak ◽  
Ali Gunduz ◽  
Ibrahim Aras ◽  
Ibrahim Ilik ◽  
Gokcenaz Kucukbas ◽  
...  

Author(s):  
И.А. Синельникова ◽  
И.В. Сопрунова ◽  
В.Н. Грященко ◽  
О.П. Николаева ◽  
Е.А. Калинина

Асфиктическая дисплазия грудной клетки представляет собой редкое аутосомно-рецессивное наследственное заболевание, которое характеризуется узкой грудной клеткой, короткими рёбрами, укороченными трубчатыми костями, возможно сочетание этих симптомов с полидактилией, аномалиями мозга, сердца, почек, печени, поджелудочной железы. В статье представлен случай пренатального выявления синдрома асфиктической дисплазии грудной клетки (синдром Жене) Short-rib thoracic dysplasia (SRTD) is an autosomal recessive disorder characterized by a constricted thoracic cage, short-ribs, shortened tubular bones, polydactyly is variably present. The visceral malformation can include anomalies brain, heart, kidneys, liver, pancreas. We present a case report of prenatally diagnosed Short-rib thoracic dysplasia (SRTD) syndrome.


2014 ◽  
Vol 04 (12) ◽  
pp. 710-715 ◽  
Author(s):  
Kishor Taori ◽  
Suresh Dhakate ◽  
Ramesh Parate ◽  
Jawhar Rathod ◽  
Amit Disawal ◽  
...  

2018 ◽  
Vol 28 (8) ◽  
pp. 1067-1069 ◽  
Author(s):  
Jessica Attene ◽  
Ernesto Casorelli ◽  
Paolo Versacci

AbstractDilatation of the superior caval vein is extremely rare, with few cases described among newborns. The association of aneurysm of the superior caval vein and lymphatic malformation is extremely uncommon. We report a case of a female infant with a prenatal diagnosis of superior caval vein aneurysm presenting at birth with a neck mass that was found to be a cystic lymphangioma.


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