P14.11: Prenatal sonographic diagnosis of microtia: Goldenhar syndrome
نویسندگان
چکیده
منابع مشابه
Sonographic prenatal diagnosis of congenital Marfan syndrome
Congenital Marfan syndrome is a rare and severe disease of the newborn, causing devastating and often fatal effects on the cardiovascular, pulmonary, and musculoskeletal systems. Familial mutations of FBN1 have been studied and identified in Marfan syndrome, but the congenital variant is often due to de novo mutations, limiting the diagnostic capabilities of genetic screening. Ultrasound is ess...
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BACKGROUND Prenatal exposure of mother to valproate (VPA) causes teratogenic effects in the fetus, namely fetal valproate syndrome (FVS). We report a case of fetal valproate syndrome rarely diagnosed by prenatal sonographic examination. CASE PRESENTATION Our patient was a female infant who was born to a 27-year-old nulliparous Japanese woman with epilepsy. The mother was diagnosed with infant...
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Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies. Isolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in couns...
متن کاملPrenatal diagnosis using sonographic guided cordocentesis.
Cordocentesis has been practiced as a diagnostical tool for prenatal diagnosis of intrauterine infections, hematological disorders, metabolic status of the fetus and rapid cytogenetic analysis. The performance of 198 cordocentesis is presented over 3 years of experience. A 21 gauge spinal needle is inserted via the optimal point on the maternal abdomen under real-time ultrasonic guidance into t...
متن کاملPrenatal sonographic diagnosis of Beckwith-Wiedemann syndrome in a fetus with omphalocoele.
To cite: Kumar N, Agarwal S, Das V, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2016217993 DESCRIPTION A 28 years old primigravida was referred to Department of Obstetrics and Gynaecology, King George’s Medical University, as 35 weeks pregnancy with polyhydramnious with suspected fetal omphalocoele. The defect was diagnosed at 24 weeks at some external ...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2015
ISSN: 0960-7692
DOI: 10.1002/uog.15454