Chorioangioma with pre-eclampsia and IUGR: a case report

Chorioangioma is a non-trophoblastic benign tumour of the placenta, arising from the primitive chorionic mesenchyme with an estimated incidence of 0.6% diagnosed antenatal on ultrasound imaging. Small chorioangiomas are often asymptomatic with a frequency of about 1%, giant chorioangiomas more than >5 cm in diameter, are rare seen in 1:3500 to 1:16000 births and are associated with maternal and fetal complications. We report a case of 23-year-old, primigravida 36.4 weeks of gestation with pre-eclampsia with asymmetrical intrauterine growth restriction (IUGR), ultrasound suggestive of large placental chorioangioma 8×6.8 cm. This patient despite having large tumour and being diagnosed late at 35 weeks had a favourable maternal and fetal outcome. Histopathology confirmed the diagnosis.

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

Prenatal Diagnosis ◽

10.1002/pd.4670 ◽

2015 ◽

Vol 35 (12) ◽

pp. 1258-1261 ◽

Cited By ~ 6

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

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

BMC Medical Genetics ◽

10.1186/s12881-020-01146-3 ◽

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.

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