Prenatal diagnosis of infantile polycystic kidneys: a case report.
نویسندگان
چکیده
منابع مشابه
Genetic Diagnosis of a Lethal Form of Autosomal Recessive Polycystic Kidney Disease
Background Autosomal recessive polycystic kidney disease (ARPKD; OMIM number 263200) is a severe early onset hereditary form of polycystic kidney and liver disease. Case Report In the current study, we present a consanguineous couple with a history of an affected son with polycystic kidney disease (PKD), hepatic failure and epileptic seizures who died at the age of 8 months. Both parents were h...
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متن کاملPrenatal diagnosis of autosomal recessive polycystic kidney disease. A case report.
We present a case of autosomal recessive polycystic kidney disease diagnosed at 28 weeks' gestation by ultrasonographic examination and magnetic resonance imaging (MRI). The fetal kidneys were symmetrically enlarged and highly echogenic by ultrasonographic examination and showed high-signal intensity on T2-weighted images by MRI. Cystic lesions were recognized by neither examination. In additio...
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We report a case of an unusual prenatal presentation of polycystic kidneys associated with multiple skeletal limb defects, including polydactyly, syndactyly, bilateral agenesis of the tibia, and club foot. The ultrasonographic picture was consistent with a diagnosis of polycystic kidney disease, either the adult onset autosomal dominant type (ADPKD) or the early onset autosomal recessive form (...
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Holoprosencephaly is a rare intracranial abnormality. The incidence of holoprsencephaly is between 0.56-0.63 of 10,000 live-born infants10. It has classified into three degrees, alobar, semilobar and lobar. In this case report we are introducing a case of Holoprosencephaly, in 13 weeks of pregnancy which was twin. We could identified this abnormality and the reduction was done in the appropriat...
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ورودعنوان ژورنال:
- The Medical journal of Malaysia
دوره 41 4 شماره
صفحات -
تاریخ انتشار 1986