P25.14: The utility of ultrasound examination in the prenatal diagnosis of a fetus with omfalocele, severe intrauterine growth restriction and mosaic trisomy 18 syndrome: case report

2012 ◽  
Vol 40 (S1) ◽  
pp. 267-267
Author(s):  
A. Oncescu ◽  
D. Albu ◽  
C. Albu ◽  
A. Enache ◽  
T. Enache
Keyword(s):  
Case Report ◽  
Prenatal Diagnosis ◽  
Intrauterine Growth Restriction ◽  
Ultrasound Examination ◽  
Growth Restriction ◽  
Trisomy 18 ◽  
Intrauterine Growth ◽  
Mosaic Trisomy

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

Prenatal diagnosis of mosaic ring chromosome 22 associated with cardiovascular abnormalities and intrauterine growth restriction

2003 ◽  
Vol 23 (1) ◽  
pp. 40-43 ◽  
Author(s):  
Chih-Ping Chen ◽  
Schu-Rern Chern ◽  
Tung-Yao Chang ◽  
Chen-Chi Lee ◽  
Li-Feng Chen ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Intrauterine Growth Restriction ◽  
Ring Chromosome ◽  
Growth Restriction ◽  
Chromosome 22 ◽  
Intrauterine Growth ◽  
Cardiovascular Abnormalities

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.

scholarly journals Prenatal diagnosis of a true umbilical cord knot in a fetus with intrauterine growth restriction and placenta accreta

2016 ◽  
Vol 55 (4) ◽  
pp. 616-617 ◽  
Author(s):  
André Campos da Cunha ◽  
Rosilene da Silveira Betat ◽  
Thaís Kappel Vieira Dal Pai ◽  
Camila Pauluci Arcolini ◽  
Amanda Muriela Gobatto ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Umbilical Cord ◽  
Intrauterine Growth Restriction ◽  
Placenta Accreta ◽  
Growth Restriction ◽  
Intrauterine Growth

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
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