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Recognition of Smith–Lemli–Opitz syndrome (RSH) in the fetus: Utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriol

✍ Scribed by Marwan Shinawi; Sara Szabo; Edwina Popek; Christopher A. Wassif; Forbes D. Porter; Lorraine Potocki


Publisher
John Wiley and Sons
Year
2005
Tongue
English
Weight
148 KB
Volume
138A
Category
Article
ISSN
1552-4825

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A cytogenetically normal male fetus was subsequently found to have female external genitalia, a cardiac malformation and mid-trimester intra-uterine growth retardation by ultrasound examination. The maternal serum oestriol level was low. The combination of low oestriol and sonographic findings sugge