Prenatal Sonographic Features of Miller-Dieker Syndrome
نویسندگان
چکیده
منابع مشابه
Miller-Dieker syndrome with ring chromosome 17.
A girl presented at 6 weeks of age with failure to thrive and arching of the back. She had various dysmorphic features, hepatosplenomegaly, and developmental delay. The electroencephalogram and cranial ultrasound were abnormal, and a computed tomogram showed lissencephaly and apparent agenesis of the corpus callosum. Because of frequent aspiration she became oxygen dependent. She later develope...
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Miller-Dieker syndrome (MDS) is a rare genetic syndrome associated with lissencephaly, developmental delay, and high mortality. We describe a patient who was diagnosed postnatally with both MDS and congenital lobar emphysema. We believe that this is the first reported case of the two conditions presenting in the same patient.
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Congenital lung lesions that can be diagnosed on the basis of prenatal sonography include cystic adenomatoid malformations and extrapulmonary bronchopulmonary sequestrations. Intralobar bronchopulmonary sequestration is a rare congenital malformation of the lung. The prenatal sonographic features of this condition are reported here.
متن کاملPrenatal sonographic features of fetal craniosynostosis.
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...
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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: Journal of Medical Ultrasound
سال: 2010
ISSN: 0929-6441
DOI: 10.1016/j.jmu.2010.11.002