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Showing 2 results for Mirshekari
Leila Mansori Far, Fatemeh Mohammadian, Mehrbanu Amirshahi, Mohammad Ahmadvand, Fereshteh Narouei, Akram Sanagoo, Marzieh Mirshekari, Leila Mirshekari, Volume 2, Issue 4 (summer 2016)
Abstract
Cornelia de Lange (CDLs) is a rare syndrome, which is characterized by multiple congenital anomalies including microcephaly, mental retardation, delayed growth and development, hypertrichosis, and defects in heart, gastrointestinal, renal and upper limbs. The syndrome prevalence is 1 per 30,000 to 50,000 live births. The diagnosis is mainly based on clinical manifestations. It can be inheritated in Autosomal dominant or X-linked forms through mutations in at least five genes NIPBL, SMC1A, HDAC8, RAD21 and SMC3. This article introduces a case of Cornelia De Lange syndrome.
Case: This study reports a 40 week boy with Cornelia de Lange syndrome, which has been diagnosed by Ultrasonography. The clinical manifestations were left lip and plate, cardiomegaly, cryptorchidism, deformities in both arms from elbows to fingers and existing only one finger. He passed away after 3 days of birth.
Conclusion: An increased awareness about this syndrome may result in an early diagnosis and a decrease in morbidity.
M Amirshahi , A Sanagoo, F Mirshekari, Volume 3, Issue 3 (spring 2017)
Abstract
Introduction: Hydrops fetalis is the accumulation of excess fluid in the fetus. Depending on the severity and cause of hydrops, the cause may be the existence of edema of the fetus and placenta, ascites, pleural effusion, and pericardial effusion. Hydrops fetalis can be secondary to Rh incompatibility or nonimmune origin. The aim of this study was to introduce a nonimmune hydrops fetalis diagnosed during labor.
Case Report: A primiparous mother with complaint of contractions and rupture of membranes and with gestational age of 30 weeks referred to the birth center and during a normal vaginal delivery, a baby girl was born that was hydropic, had ascites clinical picture and was severely ill, and died five minutes after the birth. The maternal blood group was O positive and the infant was B positive.
Conclusions: Nonimmune hydrops fetalis is a condition that often requires emergency treatment. Consulting and precise control of pregnancy can lead to the discovery of the etiology and severity of the disease.
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