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FISH image along with pre-natal and post-natal images of child with Emanuel syndrome.  

FISH image along with pre-natal and post-natal images of child with Emanuel syndrome.  

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Figure 1: Ultrasonogram of fetus with Meckel Gruber syndrome.  
Figure 2: Pedigree of the proband with a fetus with Meckel Gruber...
Figure 3: FISH image and post natal picture of fetus with Meckel Gruber...
Figure 4: Ultrasonogram of fetus showing symptoms of Holt Oram syndrome.  
Figure 5: FISH image along with pre-natal and post-natal images of...
Prenatal assessment of Three Rare Syndromes from Telangana region by 3D/4D Sonography
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  • Jan 2016
Ultrasound imaging serves as a powerful tool in the diagnosis of fetal anomalies. The three and four dimensional ultrasound scan overcomes some of the key limitations related to two-dimensional imaging. It facilitates detailed evaluation of suspected fetal abnormalities of face, neural tube, heart, skeletal and many subtle birth defects, which is p...
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... third and fourth pregnancies resulted in abnormality of rectum and imperforate anus in the new born. She was referred to our unit at 6 th month amenorrhea for prenatal diagnosis and counseling ( Figure 5). Sonogram revealed a single live fetus of 17-18 weeks with intrauterine growth retardation, dysplastic ears and congenital heart defects with small VSD along with moderate PDA and PDH confirmed by 2D ECHO were suggestive of Emanuel Syndrome; a rare disorder, first described by a cytogeneticist Dr. Emanuel. ...