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Query: UMLS:C0027960 (mole)
 21,279 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of a 3-day-old infant with Beckwith-Wiedemann syndrome who required anesthetic care during closure of an abdominal wall defect is presented. Beckwith-Wiedemann syndrome comprises a constellation of clinical features, including macroglossia, macrosomia, omphalocele, visceromegaly, mild microcephaly, facial nevus flammeus, horizontal earlobe creases, and renal medullary dysplasia. Due to the high rate of omphalocele in this syndrome, anesthetic care is frequently required during the neonatal period. Many of these infants (greater than 50%) are born prematurely. Therefore, their anesthetic care may be further complicated by associated diseases of prematurity, such as hyaline membrane disease. Additional anesthetic implications of this syndrome relate to the occurrence and management of hypoglycemia and polycythemia. Careful intraoperative management of glucose homeostasis is particularly important, since eventual neurologic outcome and intelligence will be normal provided prolonged neonatal hypoglycemia is avoided. Preoperative evaluation of the cardiac and genitourinary system, including echocardiography and renal ultrasound, are recommended because of the frequent occurrence of associated anomalies with omphalocele.
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PMID:Anesthetic considerations of an infant with Beckwith-Wiedemann syndrome. 145 18

The experience with adrenocortical neoplasms in childhood is reviewed. During three decades, ten children with adrenocortical neoplasms were seen at the authors' institution. The literature was reviewed, and 209 patients 16.5 years or younger were found. All ten patients at Vanderbilt University Hospital (VUH) presented with endocrine manifestations of the tumor. Three patients had Cushing's, two patients had virilization, and five patients had features of both. In the literature, virilization, alone or with Cushing's, was the most common mode of presentation. Feminizing tumors were uncommon and nonfunctional tumors rare. The majority of patients were female. Features associated with malignancy included 17-KS levels greater than 40 mg/24 hr, diameter greater than 6 cm, weight greater than 500 g, and histologic evidence of diffuse growth pattern, vascular invasion, and tumor cell necrosis. Although uncommon, adrenocortical neoplasms should be suspected in children with Cushing's, virilization, feminization, or a combination of these. There has been an increased incidence reported in patients with hemihypertrophy, Beckwith-Wiedemann syndrome, hemangiomas, and nevi. Following endocrinologic evaluation, imaging studies should be performed. CT scan appears to be the most useful diagnostic tool. A posterior operative approach is recommended for suspected adenomas. An anterior thoracoabdominal approach is favored for suspected malignancies with uncompromised en bloc resection. There is no evidence that adjuvant therapy provides any additional benefit.
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PMID:Experience with adrenocortical neoplasms in childhood. 382 4

Beckwith-Wiedemann syndrome, familial atypical multiple mole melanoma syndrome, and hereditary tylosis are bona fide genodermatoses with malignant potential. Each of these conditions is associated with an increased incidence of certain tumors: Wilms' tumor, adrenocortical carcinomas, pancreatoblastomas, and hepatoblastomas in Beckwith-Wiedemann syndrome; intraocular malignant melanoma, pancreatic carcinoma, and noncolorectal gastrointestinal cancers in familial atypical multiple mole melanoma syndrome; and squamous cell carcinoma of the esophagus in hereditary tylosis. Other cancer-related genodermatoses are Birt-Hogg-Dube syndrome (associated with medullary carcinoma of the thyroid and renal cell carcinoma) and its variant, Hornstein-Knickenberg syndrome (associated with colon carcinoma). Kidney tumors (Wilms' tumor and malignant rhabdoid tumor), leukemias (acute myelogenous and acute myelomonocytic), retinoblastoma, and paratesticular rhabdomyosarcoma have been reported recently in children with another genodermatosis-incontinentia pigmenti. Supernumerary nipples (polythelia) may be sporadic or familial in occurrence; their presence has been associated with an increased incidence of renal adenocarcinoma, testicular cancer, prostate cancer, and urinary bladder carcinoma. The general characteristics, mucosal and skin manifestations, and noncutaneous features of all these conditions are reviewed. Also, the associated malignancies of these genodermatoses and other conditions that are characterized by dermatologic manifestations and may be either familial or secondary to an inherited gene defect are summarized.
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PMID:Miscellaneous genodermatoses: Beckwith-Wiedemann syndrome, Birt-Hogg-Dube syndrome, familial atypical multiple mole melanoma syndrome, hereditary tylosis, incontinentia pigmenti, and supernumerary nipples. 771 45

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth syndrome with variable expression. To define the range and frequency of complications in BWS, we have studied a cohort of 76 affected patients (two previously reported). The most frequent complications were macroglossia (97%), abdominal wall defect (80%) and birth weight or postnatal growth > 90th centile (88%). Other common features were ear creases/pits (76%), facial naevus flammeus (62%), nephromegaly (59%) and hypoglycaemia (63%). Rarer complications included hemihypertrophy (24%), moderate/severe developmental delay (4%), congenital heart defects (6.5%), polydactyly (4%), neoplasia (4%) and cleft palate (2.5%). Pre-term labour occurred in 53% and polyhydramnios in 33% of BWS pregnancies. The six deaths all occurred in babies born pre-term, three of whom had major congenital abnormalities. Five patients (6.5%) from four kindreds had an unequivocal family history of BWS, but 15 of 68 apparently sporadic cases had a relative with possible BWS (minor features only). Incomplete penetrance may lead to familial BWS being underdiagnosed.
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PMID:Clinical features and natural history of Beckwith-Wiedemann syndrome: presentation of 74 new cases. 900 17

The objective of this study was to investigate the role of ultrasound in the differential diagnosis and management of early pregnancies presenting with placental molar changes. Placental features were recorded over a 10-month period in women undergoing ultrasound examination at 10-14 weeks of gestation. In cases of a molar pregnancy, the fetal karyotype was obtained in utero and, if the pregnancy continued, the maternal concentration of human chorionic gonadotropin (hCG) and uterine artery resistance to flow were measured serially. A histopathological examination of the placenta was performed in all cases after delivery. During the study period, 9425 women had an early scan and 11 molar pregnancies were identified including one classical mole, four hydatidiform moles coexisting with a normal pregnancy, three partial triploid moles and three partial moles associated in one case with a fetus presenting congenitial anomalies diagnostic of Beckwith-Wiedemann syndrome. The hCG levels were high in all cases except one case of triploidy and remained high during the rest of the pregnancy in cases of hydatidiform moles coexisting with a fetus. In these cases, the uterine artery resistance was normal. The present data indicate that placental ultrasound examination can correctly identify molar changes in early pregnancy and together with hCG level and uterine Doppler measurements can establish the differential diagnosis in utero of the various forms of placental molar transformations.
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PMID:Early ultrasound diagnosis and follow-up of molar pregnancies. 933 34

Six new cases of placental mesenchymal dysplasia are presented and the findings compared to those reported in 16 similar cases published in the literature. Mesenchymal dysplasia was suspected when a placental scan showed a partial mole with a fetus of normal size and normal karyotype. Three fetuses of this series and nine out of 18 cases from the literature review also presented with Beckwith-Wiedemann syndrome features. This placental anomaly is more commonly associated with a 46,XX karyotype. Comparable placental histopathological features in cases of mesenchymal dysplasia with or without congenital anomalies diagnostic of Beckwith-Wiedemann syndrome suggest that in some of these cases the overgrowth of specific fetal tissue is limited to the placenta and the fetus remains unaffected. Histological similarity between mesenchymal dysplasia and cellular chorioangioma suggests a common embryologic origin for both these placental abnormalities. Ultrasound/Doppler serial investigations indicate that the circulatory imbalance is due to hypovascularization of the dysplastic lobules, found in mesenchymal dysplasia. This induces the progressive aneurysmal and varicose dilatation of chorionic vessels, however, these anatomical transformations are not associated with a change in resistance to flow in both uterine and umbilical circulations nor with an excess of obstetrical complication when the fetus is anatomically normal.
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PMID:Perinatal features associated with placental mesenchymal dysplasia. 936 6

Beckwith-Wiedemann syndrome is a rare genetic overgrowth syndrome presenting with organomegaly, abdominal wall defects, macroglossia, and postnatal hypoglycemia. Head and neck manifestations of this abnormality include flame nevus of the forehead and characteristic sulci of the ear lobe. We present a 7-year-old child with Beckwith-Wiedemann syndrome and a rare finding of conductive hearing loss on both sides due to congenital malleus and stapedial fixation. Small fenestra stapedotomy and mobilization of malleus fixation in the epitympanum improved the child's hearing. The bony fixation of the malleus and stapes is explained as atavism of the processus anterior mallei and peripheral lamina stapedialis in embryological development.
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PMID:Conductive hearing loss in Beckwith-Wiedemann syndrome. 1037 44

Partial hydatidiform mole is optimally diagnosed histopathologically when four microscopic features coexist: 1) two populations of villi, 2) enlarged villi (> or = 3-4 mm) with central captivation, 3) irregular villi with geographic, scalloped borders with trophoblast inclusions, and 4) trophoblast hyperplasia (usually focal and involving syncytiotrophoblast). Pathologic mimics of partial mole include Beckwith-Wiedemann syndrome, placental angiomatous malformation, twin gestation with complete mole and existing fetus, early complete hydatidiform mole, and hydropic spontaneous abortion. Because partial hydatidiform mole results from diandric triploidy, flow cytometry (or another method to assess ploidy) can be utilized by pathologists for supporting diagnostic classification of problematic specimens, or for educational or quality assurance purposes. Confirmation of the histopathologic diagnosis by ploidy or molecular studies is important for scientific reports of partial hydatidiform mole, especially when unusual or aggressive outcomes (such as choriocarcinoma) are reported.
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PMID:Partial hydatidiform mole: clinicopathological features, differential diagnosis, ploidy and molecular studies, and gold standards for diagnosis. 1160 13

Placental mesenchymal dysplasia is a rare condition of pregnancy that presents as macroscopic features of molar change in the placenta and normal karyotype fetus. These cases are often misdiagnosed as partial mole. We report a new case of mesenchymal dysplasia. A 27-year-old Japanese primigravida delivered an 820 g female baby (46XX karyotype) without congenital anomalies at 27 weeks gestation due to massive bleeding with placenta previa. The placenta had mimicking partial moles, grape-like vesicles and normal villi that diffusely occupied the area on the maternal surface of the placenta. Pathologically, enlarged stem villi contained loose, moderately cellular connective tissue with focal cistern-like formation, and peripherally located vessels. Abnormal trophoblastic proliferation and trophoblastic inclusions were not observed in any of the sections examined. Some villi contained chorioangiomatoid changes. The mother and child were followed up for more than 5 years and showed no sign of trophoblastic disease or Beckwith-Wiedemann syndrome features.
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PMID:Placental mesenchymal dysplasia initially diagnosed as partial mole. 1462 9

Beckwith-Wiedemann syndrome (BWS, OMIM 130650) is characterized by macrosomia, macroglossia, visceromegaly, hemihypertrophy, abdominal wall defects, ear creases/pits, neonatal hypoglycemia, polyhydramnios, placentomegaly, placental mesenchymal dysplasia, cardiac defects, nevus flammeus, hemangiomata, and an increased frequency of embryonal tumors. This article provides an overview of BWS including the genetics, genetic diagnosis, genotype/epigenotype-phenotype correlations, association with assisted reproductive technology, and prenatal diagnosis. Omphalocele is an important sonographic marker for BWS. Prenatal detection of omphalocele, fetal overgrowth, polyhydramnios, increased abdominal circumference, placentomegaly and/or placental mesenchymal dysplasia should alert one to the possibility of BWS and prompt a genetic investigation and counseling for BWS.
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PMID:Syndromes and disorders associated with omphalocele (I): Beckwith-Wiedemann syndrome. 1763 16


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