Brachmann-de Lange syndrome: definition of prenatal sonographic features to facilitate definitive prenatal diagnosis
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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C is characterized as the early closure of the calvarial sutures.1 The classification of skull malformations in craniosynostosis is based on the sutures involved.1 Craniosynostosis involves approximately one infant in 2000 live births. More than 150 different types of craniosynostosis have been described and most isolated cases of craniosynostosis have multifactorial or sporadic inheritance,2 a...
متن کاملPrenatal sonographic features of penoscrotal transposition.
Received August 5, 2002, from Sonoscan Ultrasonic Scan Centre (S.B.V.) and private practice, pediatric surgery (V.R.R.), Coimbatore, India; and private practice, radiology (S.K.M.), and Kumarakriba Clinic (K.M.), Pollachi, India. Manuscript accepted for publication August 7, 2002. Address correspondence and reprint requests to S. Boopathy Vijayaraghavan, MD, DMRD, 16 B Venkatachalam Rd, R. S. P...
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ژورنال
عنوان ژورنال: Prenatal Diagnosis
سال: 2010
ISSN: 0197-3851
DOI: 10.1002/pd.2577