multicystic dysplastic kidney/sembap

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Infantile lethal variant of Simpson-Golabi-Behmel syndrome associated with hydrops fetalis.

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Simpson-Golabi Behmel syndrome (SGBS) is an X-linked disorder characterized by pre- and postnatal macrosomia, minor facial anomalies, and variable visceral, skeletal, and neurological abnormalities. Since its first description by Simpson et al. [1975: BD:OA XI(2):18-24], a wide clinical range of

A 34-week-old male fetus with short rib polydactyly syndrome (SRPS) type I (Saldino-Noonan) with pancreatic cysts.

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A 34-week-old male fetus (first diagnosed at 28 weeks of gestation) with short rib polydactyly type I Saldino-Noonan syndrome is presented in this study. In the postmortem examination of the fetus, pancreatic dysplasia, multiple cysts and multicystic dysplastic kidneys, omphalomesenteric cyst,

Fetal urine production at different gestational ages: correlation to various compromised fetuses in utero.

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To reveal which fetal life-threatening diseases significantly contribute to impairment of in-utero urine production and also to determine the gestational age at which time aberrant urine production becomes manifest, we observed 376 compromised fetuses (subject group) at 21-42 weeks' gestation using

Target scan-the experience at saveetha medical college.

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BACKGROUND The identification of foetal anomalies in utero is important. The prenatal detection of such abnormalities, often aids in planning the appropriate obstetrical management. OBJECTIVE To evaluate the antenatal prevalence of the major congenital anomalies and the malformation patterns which

Acardius anceps with evidence of intrauterine vascular occlusion: report of a case and discussion of the pathogenesis.

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An acardiac anomaly (holoacardius anceps) showed advanced development of the head and lower body parts in the absence of all thoracic and upper abdominal viscera. Large vascular anastomoses in the vertebral canal formed the only blood supply to the head. The two-vessel umbilical cord of the acardius

Study of Lethal Congenital Malformations at a Tertiary-Care Referral Centre in North India.

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Lethal congenital malformations (LCMs) are fatal birth defects that are an important cause of fetal/neonatal death. There is a lack of informative data about these malformations in India, a country that shares the maximum burden of neonatal mortality due to congenital birth defects. Therefore, we

Diagnostic echographic findings in cryptophthalmos syndrome (Fraser syndrome).

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We report two male siblings with cryptophthalmos syndrome (Fraser syndrome), an autosomal recessive multiple malformation syndrome with cryptophthalmos, abnormal genitalia, and syndactyly of the fingers and toes as major clinical symptoms. Renal anomalies (uni- or bilateral agenesis) occur in 85 per

Giant cystic abdominal masses in children.

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In this pictorial essay the common and uncommon causes of large cystic and cyst-like abdominal masses in children are reviewed. We discuss and illustrate the following: mesenchymal hamartoma, choledochal cyst, hydrops of the gallbladder, congenital splenic cyst, pancreatic pseudocyst, pancreatic

Secretory diarrhea with protein-losing enteropathy, enterocolitis cystica superficialis, intestinal lymphangiectasia, and congenital hepatic fibrosis: a new syndrome.

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Four infants had noninfectious intractable diarrhea, vomiting, anasarca, hepatomegaly, hypoglycemia, and malnutrition within the first 3 months of life. Their parents originated from the same Northeastern part of Quebec, and consanguinity was found in two kindreds. Diarrhea was secretory in three

Prenatal diagnosis of cloacal malformations.

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BACKGROUND Prenatal diagnosis of anorectal malformations currently occurs in 0-15.9% of screened cases. In cloacas, these numbers are unknown. We speculate that some images from prenatal ultrasound studies may suggest the diagnosis of cloaca, but are not recognized because of a lack of suspicion for

Three- and four-dimensional HDlive rendering images of normal and abnormal fetuses: pictorial essay.

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BACKGROUND Our objective is to present our experience of normal embryonic development and fetal anatomy and fetal anomalies reconstructed employing the three-dimensional (3D) and four-dimensional (4D) HDlive rendering mode. METHODS A total of 18 normal embryos and fetuses and 21 abnormal fetuses

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