Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019214 (hepatosplenomegaly)
 4,408 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Beckwith-Wiedemann syndrome is a rare disease characterized by a constellation of congenital and time-dependent abnormalities such as defects of the abdominal wall, gigantism, craniofacial dysmorphism, visceromegaly and hemihypertrophy. The syndrome is divided into complete and incomplete forms and, as it may only have subtle phenotypic features, it is easily neglected by clinicians. Patients with this syndrome, particularly those associated with hemihypertrophy, have a high risk of growing malignant tumors. This is a case report of a patient with an incomplete form of this syndrome with left hemihypertrophy, hepatosplenomegaly and a small right adrenal cystic lesion.
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PMID:Incomplete forms of Beckwith-Wiedemann syndrome: report of a case. 773 14

Placental mesenchymal dysplasia (PMD) is a rare placental abnormality characterised by placentomegaly and grape-like vesicles resembling partial mole by ultrasonography, but in contrast to partial mole can co-exist with a viable fetus. Although the karyotype is normal, the fetus is at increased risk for intrauterine growth restriction, intrauterine fetal demise or perinatal death and Beckwith-Wiedemann syndrome. Prenatal diagnosis is difficult and the final diagnosis is usually achieved by postpartum histological examination of the placenta. We present two recent cases of placental mesenchymal dysplasia with poor obstetric outcome. One fetus presented with reduced growth parameters, while the other fetus showed hepatosplenomegaly and early hydropic changes that appear to be associated with Beckwith-Wiedemann syndrome. In this report, the clinico-pathological features of two cases of PMD are discussed and the differentiation from a partial mole is highlighted. This study also supports the utility of cytogenetic ploidy analysis and p57KIP2 protein staining in the evaluation of pregnancies with PMD.
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PMID:Placental mesenchymal dysplasia: a rare clinicopathologic entity confused with molar pregnancy. 2355 Aug 50