scholarly journals Fetal PCB syndrome: clinical features, intrauterine growth retardation and possible alteration in calcium metabolism.

1985 ◽  
Vol 59 ◽  
pp. 41-45 ◽  
Author(s):  
F Yamashita ◽  
M Hayashi
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


Author(s):  
José Ramón Fernández-Fructuoso ◽  
Cristina De la Torre-Sandoval ◽  
Madeleine Harbison ◽  
Sandra Chantot-bastaraud ◽  
I. Temple ◽  
...  

Silver Russell syndrome (SRS) is a congenital disorder characterised by intrauterine growth retardation (IUGR), feeding difficulties and postnatal growth retardation. In a small number of cases PLAG1 variants have been described (OMIM #618907). PLAG1 haploinsufficiency decreases IGF2 expression and produces a Silver Russell syndrome like phenotype. Here, we describe the phenotype and molecular features of a 26 months girl with clinical features of SRS and a de novo 2.1 Mb deletion encompassing PLAG1 is reported in association with clinical features suggestive of SRS.


1975 ◽  
Vol 86 (6) ◽  
pp. 936-941 ◽  
Author(s):  
Reginald C. Tsang ◽  
Mardi Gigger ◽  
William Oh ◽  
David R. Brown

2016 ◽  
pp. 43-47
Author(s):  
O.V. Basystyi ◽  

The data of domestic and foreign literature on etiology, pathogenesis and intrauterine growth retardation diagnosis are presented in the paper. It highlights pathogenetic role of nitric oxide deficiency in case of obstetric complications and intrauterine growth retardation. Key words: intrauterine growth retardation (IUGR), system L-arginin–NO, obstetric complications.


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