Campylobacter coliinfection causing second trimester intrauterine growth restriction (IUGR): a case report and review of the literature

2015 ◽  
Vol 35 (12) ◽  
pp. 1258-1261 ◽  
Author(s):  
Adi Kuperman-Shani ◽  
Zvi Vaknin ◽  
Sonia Mendlovic ◽  
Ronit Zaidenstein ◽  
Yaakov Melcer ◽  
...  
Keyword(s):  
Case Report ◽  
Intrauterine Growth Restriction ◽  
Growth Restriction ◽  
Second Trimester ◽  
Review Of The Literature ◽  
Intrauterine Growth

scholarly journals A novel PIK3R1 mutation of SHORT syndrome in a Chinese female with diffuse thyroid disease: a case report and review of literature

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Liying Sun ◽  
Qianwen Zhang ◽  
Qun Li ◽  
Yijun Tang ◽  
Yirou Wang ◽  
...  
Keyword(s):  
Case Report ◽  
Short Stature ◽  
Thyroid Disease ◽  
Nonsense Mutation ◽  
Intrauterine Growth Restriction ◽  
De Novo ◽  
Protein Translation ◽  
Growth Restriction ◽  
Intrauterine Growth ◽  
Short Syndrome

Abstract Background SHORT syndrome is a rare genetic disease named with the acronyms of short stature, hyper-extensibility of joints, ocular depression, Rieger anomaly and teething delay. It is inherited in an autosomal dominant manner confirmed by the identification of heterozygous mutations in PIK3R1. This study hereby presents a 15-year-old female with intrauterine growth restriction, short stature, teething delay, characteristic facial gestalts who was identified a novel de novo nonsense mutation in PIK3R1. Case presentation The proband was admitted to our department due to irregular menstrual cycle and hirsutism with short stature, who had a history of intrauterine growth restriction and presented with short stature, teething delay, characteristic facial gestalts, hirsutism, and thyroid disease. Whole-exome sequencing and Sanger sequencing revealed c.1960C > T, a novel de novo nonsense mutation, leading to the termination of protein translation (p. Gln654*). Conclusions This is the first case report of SHORT syndrome complicated with thyroid disease in China, identifying a novel de novo heterozygous nonsense mutation in PIK3R1 gene (p. Gln654*). The phenotypes are mildly different from other cases previously described in the literature, in which our patient presents with lipoatrophy, facial feature, and first reported thyroid disease. Thyroid disease may be a new clinical symptom of patients with SHORT syndrome.

Dichorionic Twins Discordant for Massive Perivillous Fibrinoid Deposition: Report of a Case and Review of the Literature

2017 ◽  
Vol 26 (1) ◽  
pp. 41-46 ◽  
Author(s):  
Ona Faye-Petersen ◽  
Adrienne Sauder ◽  
Ydamis Estrella ◽  
Debra S. Heller
Keyword(s):  
Intrauterine Growth Restriction ◽  
Pregnancy Loss ◽  
Perinatal Outcomes ◽  
Growth Restriction ◽  
Unknown Etiology ◽  
Dizygotic Twin ◽  
Review Of The Literature ◽  
Supportive Evidence ◽  
Intrauterine Growth ◽  
Immune Mediated

Massive perivillous fibrinoid deposition (MFD) and maternal floor infarction (MFI) are lesions of unknown etiology associated with poor perinatal outcomes, including fetal intrauterine growth restriction and neurodevelopmental injury, high risks of pregnancy loss, and recurrence in subsequent gestations. MFI comprises massive intervillous fibrinoid deposition concentrated at the maternal floor. MFD is a similar lesion but is diffuse within the parenchyma. MFD/MFI lesions represent a spectrum of severity of cloak-like perivillous fibrinoid deposition, and there is mounting evidence that, often, they represent sequelae of immune-mediated phenomena and/or an imbalance in factors that normally maintain the fluidity of blood in the maternal space. There are only a handful of reported instances of discordant MFD/MFI occurrence in twin placentas. We present a fourth such occurrence in a fused, dichorionic diamniotic twin placenta and submit that our dizygotic twin gestation case provides additional supportive evidence that immune-mediated mechanisms are involved in the formation of pathological accumulations of fibrinoid, at least in some cases.

Severe intrauterine growth restriction and trisomy 15 confined placental mosaicism: a case report and review of literature

2005 ◽  
Vol 25 (2) ◽  
pp. 140-147 ◽  
Author(s):  
Serena Redaelli ◽  
Elena Sala ◽  
Nadia Roncaglia ◽  
Carla Colombo ◽  
Francesca Crosti ◽  
...  
Keyword(s):  
Case Report ◽  
Intrauterine Growth Restriction ◽  
Growth Restriction ◽  
Review Of Literature ◽  
Intrauterine Growth ◽  
Placental Mosaicism

scholarly journals A partial molar pregnancy associated with a fetus with intrauterine growth restriction delivered at 31 weeks: a case report

2019 ◽  
Vol 13 (1) ◽  
Author(s):  
Pasquale De Franciscis ◽  
Antonio Schiattarella ◽  
Domenico Labriola ◽  
Carolina Tammaro ◽  
Enrico Michelino Messalli ◽  
...  
Keyword(s):  
Case Report ◽  
Intrauterine Growth Restriction ◽  
Growth Restriction ◽  
Molar Pregnancy ◽  
Intrauterine Growth

Second trimester amniotic fluid annexin A5 levels and subsequent development of intrauterine growth restriction

2008 ◽  
Vol 28 (10) ◽  
pp. 887-891 ◽  
Author(s):  
Ozgur Dundar ◽  
Pınar Yoruk ◽  
Levent Tutuncu ◽  
Murat Muhcu ◽  
Osman Ipcioglu ◽  
...  
Keyword(s):  
Amniotic Fluid ◽  
Intrauterine Growth Restriction ◽  
Subsequent Development ◽  
Growth Restriction ◽  
Annexin A5 ◽  
Second Trimester ◽  
Intrauterine Growth
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