scholarly journals VP16.15: Rare fetal malformation syndrome: Meckel–Gruber syndrome

2021 ◽  
Vol 58 (S1) ◽  
pp. 167-167
Author(s):  
F. Affes ◽  
H. Frikha ◽  
I. Karray ◽  
S. Ernez ◽  
A. Karoui ◽  
...  
2018 ◽  
Vol 218 (1) ◽  
pp. S54-S55 ◽  
Author(s):  
Michelle Turley ◽  
Gregory Valentine ◽  
Maxim Seferovic ◽  
Martha Rac ◽  
Carey Eppes ◽  
...  

2014 ◽  
Vol 35 (2) ◽  
pp. 200-202 ◽  
Author(s):  
Chloé Quélin ◽  
Philippe Loget ◽  
Dominique D'Hervé ◽  
Mélanie Fradin ◽  
Joëlle Milon ◽  
...  

1993 ◽  
Vol 5 (2) ◽  
pp. 105-119 ◽  
Author(s):  
James P Neilson ◽  
Caroline A Crowther

Multiple pregnancy is associated with a high rate of perinatal loss – mainly due to preterm labour but with important contributions from fetal malformation, intrauterine growth retardation and twin-twin transfusion syndrome. The overall perinatal mortality rate is consistently around six times that of singleton pregnancies but the rate rises progressively with the number of fetuses. Rates of 63,164,200,214 and 416 per 1000 births have been recently reported for twins, triplets, quadruplets, quintuplets and sextuplets respectively. In addition to these alarming figures, it should be emphasized that the restricted concept of perinatal mortality obscures the real extent of loss. If we include late abortion (after 20 weeks), late neonatal deaths and deaths in infancy from perinatal causes, as well as the usual indices of perinatal mortality (stillbirths and early neonatal deaths) we find that the total loss rate from twin pregnancy alone doubles and may be close to 10%. Although the rate of loss from multiple pregnancies is now substantially higher than that associated with the pregnancies of diabetic women, the challenge of multiple pregnancy has not been met with the same commitment or organisation of specialized perinatal services as has diabetes.


2012 ◽  
Vol 32 (2) ◽  
pp. 175-177
Author(s):  
J Cheriathu ◽  
IE D'souza ◽  
LJ John ◽  
R El Bahtimi

De Barsy et al first reported a rare cutaneo-oculo-cerebral malformation-syndrome now commonly referred as ‘progerioid syndrome of de Barsy’. It is the constellation of progeria-like appearance, cutis laxa, intrauterine growth retardation, corneal clouding and hypotonia. We report a case of Debarsy syndrome in a neonate presented at birth with typical clinical features with hypocalcemic seizures. There are no previous reports among Afghani origin and also first case reported from United Arab Emirates, there have been no reported cases of hypocalcemic seizures. J Nepal Paediatr Soc 2012;32(2):175-177 doi: http://dx.doi.org/10.3126/jnps.v32i2.5993


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