Uterine torsion and intrauterine growth restriction: Case report and systematic literature review

2021 ◽  
Author(s):  
Federico Ferrari ◽  
Filippo Alberto Ferrari ◽  
Beatrice Negri ◽  
Sara Forte ◽  
Laura Franceschetti ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Systematic Literature Review ◽  
Intrauterine Growth Restriction ◽  
Growth Restriction ◽  
Intrauterine Growth ◽  
Uterine Torsion

Non-placental causes of intrauterine growth restriction – case report and literature review

Perinatologia ◽  
2018 ◽  
Vol 1 (2) ◽  
pp. 25
Author(s):  
Ioana Corina Gorgoi ◽  
Andreea Ruxandra Albu ◽  
Monica Mihaela Cîrstoiu
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Intrauterine Growth Restriction ◽  
Growth Restriction ◽  
Intrauterine Growth

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.

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
Sign in / Sign up

Export Citation Format

Share Document