VP32.16: Goldenhar syndrome: a rare congenital disorder with scarce prenatal findings: two cases in the same region
نویسندگان
چکیده
منابع مشابه
Goldenhar Syndrome with a Rare Complication: Hydrocephalus
BACKGROUND Goldenhar syndrome, also known as oculo-auriculo-vertebral spectrum (OAV) is a rare disorder in which the facial and vertebral anomalies are frequently associated with cardiac and pulmonary defects. The syndrome was first described by Dr. Maurice Goldenhar in 1952. The abnormalities usually involve one side of the body, and may range from mild to severe. While the deformities of the ...
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Background:Prenatal ultrasound plays an important role in the early and accurate evaluation of the congenital skeletal and non-skeletal abnormalities of the fetus and is effective in predicting pregnancy outcomes. Congenital femoral deficiency (CFD) is a rare complicated and non-hereditary anomaly that includes the hypoplasia of a portion of the femoral bone with shortening the lower limb. Cas...
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Congenital nephrotic syndrome (CNS) can be caused by neonatal infections and renal diseases that usually occur in early infancy. The most common CNS is the Finnish type, which is an autosomal recessively inherited disease characterized by intrauterine onset of massive proteinuria. In this study, we presented a preterm neonate confirmed as the first case of CNS in Iran by genetic study, who was ...
متن کاملGoldenhar Syndrome: A rare case report
Goldenhar Syndrome or oculoauriculovertebral spectrum is a complex syndrome characterized by an association of maxillomandibular hypoplasia, deformity of the ear, ocular dermoid and vertebral anomalies and the most severe form of hemifacial microsomia. Here, we describe a 26-year-old male patient with unilateral hemifacial microsomia, preauricular ear tags, macrosomia on the right side of the f...
متن کاملA Rare Congenital Liver Disorder with Varied Clinical Presentations –report of Two Cases
Caroli’s disease and Caroli’s syndrome are rare congenital cystic disorders of intrahepatic biliary radicals. It is still unclear whether they represent distinct entities or, are different stages of the same disease distinguished by hepatic fibrosis. Here we are reporting two cases-a three-year-old boy presenting with portal hypertension, cholestatic jaundice and rickets, and a ten-year-old gir...
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ژورنال
عنوان ژورنال: Ultrasound in Obstetrics & Gynecology
سال: 2020
ISSN: 0960-7692,1469-0705
DOI: 10.1002/uog.22819