The Experts below are selected from a list of 1950 Experts worldwide ranked by ideXlab platform
Carlo Bellini - One of the best experts on this subject based on the ideXlab platform.
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Congenital pulmonary Lymphangiectasia
Orphanet Journal of Rare Diseases, 2006Co-Authors: Carlo Bellini, Francesco Boccardo, Corradino Campisi, Eugenio BonioliAbstract:Congenital pulmonary Lymphangiectasia (PL) is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.
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Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal Lymphangiectasia.
American Journal of Medical Genetics Part A, 2005Co-Authors: Eugenio Bonioli, Gianantonio Spena, Guido Morcaldi, Antonio Di Stefano, Giovanni Serra, Raoul C M Hennekam, Carlo BelliniAbstract:We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal Lymphangiectasia. The association of intestinal Lymphangiectasia and aplasia cutis, and the association of intestinal Lymphangiectasia with brain heterotopia in the lymphedema-Lymphangiectasia-mental retardation syndrome have been described in single reports. In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene. (C) 2004 Wiley-Liss, Inc.
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Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal Lymphangiectasia.
American journal of medical genetics. Part A, 2005Co-Authors: Eugenio Bonioli, Gianantonio Spena, Guido Morcaldi, Antonio Di Stefano, Giovanni Serra, Raoul C M Hennekam, Carlo BelliniAbstract:We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal Lymphangiectasia. The association of intestinal Lymphangiectasia and aplasia cutis, and the association of intestinal Lymphangiectasia with brain heterotopia in the lymphedema-Lymphangiectasia-mental retardation syndrome have been described in single reports. In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene.
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hennekam syndrome presenting as nonimmune hydrops fetalis congenital chylothorax and congenital pulmonary Lymphangiectasia
American Journal of Medical Genetics Part A, 2003Co-Authors: Carlo Bellini, Francesco Boccardo, Massimo Mazzella, Cesare Arioni, Gioconda Taddei, Paolo Tomà, Corradino Campisi, Raoul C M Hennekam, Giovanni SerraAbstract:We report a female infant with congenital lymphedema, facial anomalies, intestinal Lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary Lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural-pulmonary involvement of this generalized lymph vessel malformation syndrome. (C) 2003 Wiley-Liss, Inc
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Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary Lymphangiectasia.
American journal of medical genetics. Part A, 2003Co-Authors: Carlo Bellini, Francesco Boccardo, Massimo Mazzella, Cesare Arioni, Gioconda Taddei, Paolo Tomà, Corradino Campisi, Raoul C M Hennekam, Giovanni SerraAbstract:We report a female infant with congenital lymphedema, facial anomalies, intestinal Lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary Lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural-pulmonary involvement of this generalized lymph vessel malformation syndrome.
Eugenio Bonioli - One of the best experts on this subject based on the ideXlab platform.
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Congenital pulmonary Lymphangiectasia
Orphanet Journal of Rare Diseases, 2006Co-Authors: Carlo Bellini, Francesco Boccardo, Corradino Campisi, Eugenio BonioliAbstract:Congenital pulmonary Lymphangiectasia (PL) is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.
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Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal Lymphangiectasia.
American Journal of Medical Genetics Part A, 2005Co-Authors: Eugenio Bonioli, Gianantonio Spena, Guido Morcaldi, Antonio Di Stefano, Giovanni Serra, Raoul C M Hennekam, Carlo BelliniAbstract:We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal Lymphangiectasia. The association of intestinal Lymphangiectasia and aplasia cutis, and the association of intestinal Lymphangiectasia with brain heterotopia in the lymphedema-Lymphangiectasia-mental retardation syndrome have been described in single reports. In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene. (C) 2004 Wiley-Liss, Inc.
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Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal Lymphangiectasia.
American journal of medical genetics. Part A, 2005Co-Authors: Eugenio Bonioli, Gianantonio Spena, Guido Morcaldi, Antonio Di Stefano, Giovanni Serra, Raoul C M Hennekam, Carlo BelliniAbstract:We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal Lymphangiectasia. The association of intestinal Lymphangiectasia and aplasia cutis, and the association of intestinal Lymphangiectasia with brain heterotopia in the lymphedema-Lymphangiectasia-mental retardation syndrome have been described in single reports. In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene.
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Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: Confirmation of the Urioste syndrome.
American Journal of Medical Genetics, 2001Co-Authors: C Bellini, Massimo Mazzella, Eugenio Bonioli, Nathalie Josso, Corinne Belville, Simona Costabel, Angela Rita Sementa, Carla Enrica Marino, P Tomà, Raoul C M HennekamAbstract:We describe two newborn brothers with a pattern of malformation characterized by the persistence of Müllerian duct derivatives, intestinal Lymphangiectasia, hypertrophied alveolar ridges, and early death. Postmortem examination showed the presence of a rudimentary uterus, fallopian tubes, the upper third of a vagina, a prostate of normal shape, a dilated colon, and generalized intestinal and pulmonary Lymphangiectasia. The syndrome was first delineated by Urioste and co-workers [1993: Am J Med Genet 47:494-503]. These cases confirm the existence of a definite and distinct entity.
Giovanni Serra - One of the best experts on this subject based on the ideXlab platform.
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Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal Lymphangiectasia.
American Journal of Medical Genetics Part A, 2005Co-Authors: Eugenio Bonioli, Gianantonio Spena, Guido Morcaldi, Antonio Di Stefano, Giovanni Serra, Raoul C M Hennekam, Carlo BelliniAbstract:We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal Lymphangiectasia. The association of intestinal Lymphangiectasia and aplasia cutis, and the association of intestinal Lymphangiectasia with brain heterotopia in the lymphedema-Lymphangiectasia-mental retardation syndrome have been described in single reports. In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene. (C) 2004 Wiley-Liss, Inc.
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Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal Lymphangiectasia.
American journal of medical genetics. Part A, 2005Co-Authors: Eugenio Bonioli, Gianantonio Spena, Guido Morcaldi, Antonio Di Stefano, Giovanni Serra, Raoul C M Hennekam, Carlo BelliniAbstract:We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal Lymphangiectasia. The association of intestinal Lymphangiectasia and aplasia cutis, and the association of intestinal Lymphangiectasia with brain heterotopia in the lymphedema-Lymphangiectasia-mental retardation syndrome have been described in single reports. In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene.
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hennekam syndrome presenting as nonimmune hydrops fetalis congenital chylothorax and congenital pulmonary Lymphangiectasia
American Journal of Medical Genetics Part A, 2003Co-Authors: Carlo Bellini, Francesco Boccardo, Massimo Mazzella, Cesare Arioni, Gioconda Taddei, Paolo Tomà, Corradino Campisi, Raoul C M Hennekam, Giovanni SerraAbstract:We report a female infant with congenital lymphedema, facial anomalies, intestinal Lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary Lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural-pulmonary involvement of this generalized lymph vessel malformation syndrome. (C) 2003 Wiley-Liss, Inc
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Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary Lymphangiectasia.
American journal of medical genetics. Part A, 2003Co-Authors: Carlo Bellini, Francesco Boccardo, Massimo Mazzella, Cesare Arioni, Gioconda Taddei, Paolo Tomà, Corradino Campisi, Raoul C M Hennekam, Giovanni SerraAbstract:We report a female infant with congenital lymphedema, facial anomalies, intestinal Lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary Lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural-pulmonary involvement of this generalized lymph vessel malformation syndrome.
Raoul C M Hennekam - One of the best experts on this subject based on the ideXlab platform.
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Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal Lymphangiectasia.
American Journal of Medical Genetics Part A, 2005Co-Authors: Eugenio Bonioli, Gianantonio Spena, Guido Morcaldi, Antonio Di Stefano, Giovanni Serra, Raoul C M Hennekam, Carlo BelliniAbstract:We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal Lymphangiectasia. The association of intestinal Lymphangiectasia and aplasia cutis, and the association of intestinal Lymphangiectasia with brain heterotopia in the lymphedema-Lymphangiectasia-mental retardation syndrome have been described in single reports. In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene. (C) 2004 Wiley-Liss, Inc.
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Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal Lymphangiectasia.
American journal of medical genetics. Part A, 2005Co-Authors: Eugenio Bonioli, Gianantonio Spena, Guido Morcaldi, Antonio Di Stefano, Giovanni Serra, Raoul C M Hennekam, Carlo BelliniAbstract:We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal Lymphangiectasia. The association of intestinal Lymphangiectasia and aplasia cutis, and the association of intestinal Lymphangiectasia with brain heterotopia in the lymphedema-Lymphangiectasia-mental retardation syndrome have been described in single reports. In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene.
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hennekam syndrome presenting as nonimmune hydrops fetalis congenital chylothorax and congenital pulmonary Lymphangiectasia
American Journal of Medical Genetics Part A, 2003Co-Authors: Carlo Bellini, Francesco Boccardo, Massimo Mazzella, Cesare Arioni, Gioconda Taddei, Paolo Tomà, Corradino Campisi, Raoul C M Hennekam, Giovanni SerraAbstract:We report a female infant with congenital lymphedema, facial anomalies, intestinal Lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary Lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural-pulmonary involvement of this generalized lymph vessel malformation syndrome. (C) 2003 Wiley-Liss, Inc
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Hennekam syndrome presenting as nonimmune hydrops fetalis, congenital chylothorax, and congenital pulmonary Lymphangiectasia.
American journal of medical genetics. Part A, 2003Co-Authors: Carlo Bellini, Francesco Boccardo, Massimo Mazzella, Cesare Arioni, Gioconda Taddei, Paolo Tomà, Corradino Campisi, Raoul C M Hennekam, Giovanni SerraAbstract:We report a female infant with congenital lymphedema, facial anomalies, intestinal Lymphangiectasia consistent with a diagnosis of Hennekam syndrome. At birth the patient presented with severe respiratory distress due to nonimmune hydrops fetalis, a congenital chylothorax (CC), and pulmonary Lymphangiectasia. Hydrops fetalis may be present in newborns with the Hennekam syndrome. Lymphoscintigraphy can be useful in explaining pleural-pulmonary involvement of this generalized lymph vessel malformation syndrome.
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Persistence of Müllerian derivatives and intestinal lymphangiectasis in two newborn brothers: Confirmation of the Urioste syndrome.
American Journal of Medical Genetics, 2001Co-Authors: C Bellini, Massimo Mazzella, Eugenio Bonioli, Nathalie Josso, Corinne Belville, Simona Costabel, Angela Rita Sementa, Carla Enrica Marino, P Tomà, Raoul C M HennekamAbstract:We describe two newborn brothers with a pattern of malformation characterized by the persistence of Müllerian duct derivatives, intestinal Lymphangiectasia, hypertrophied alveolar ridges, and early death. Postmortem examination showed the presence of a rudimentary uterus, fallopian tubes, the upper third of a vagina, a prostate of normal shape, a dilated colon, and generalized intestinal and pulmonary Lymphangiectasia. The syndrome was first delineated by Urioste and co-workers [1993: Am J Med Genet 47:494-503]. These cases confirm the existence of a definite and distinct entity.
Gianantonio Spena - One of the best experts on this subject based on the ideXlab platform.
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Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal Lymphangiectasia.
American Journal of Medical Genetics Part A, 2005Co-Authors: Eugenio Bonioli, Gianantonio Spena, Guido Morcaldi, Antonio Di Stefano, Giovanni Serra, Raoul C M Hennekam, Carlo BelliniAbstract:We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal Lymphangiectasia. The association of intestinal Lymphangiectasia and aplasia cutis, and the association of intestinal Lymphangiectasia with brain heterotopia in the lymphedema-Lymphangiectasia-mental retardation syndrome have been described in single reports. In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene. (C) 2004 Wiley-Liss, Inc.
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Aplasia cutis congenita, skull defect, brain heterotopia, and intestinal Lymphangiectasia.
American journal of medical genetics. Part A, 2005Co-Authors: Eugenio Bonioli, Gianantonio Spena, Guido Morcaldi, Antonio Di Stefano, Giovanni Serra, Raoul C M Hennekam, Carlo BelliniAbstract:We describe a female infant with a previously unreported combination of manifestations characterized by aplasia cutis, skull defect, brain heterotopia, mild congenital lymphedema, and intestinal Lymphangiectasia. The association of intestinal Lymphangiectasia and aplasia cutis, and the association of intestinal Lymphangiectasia with brain heterotopia in the lymphedema-Lymphangiectasia-mental retardation syndrome have been described in single reports. In one family, the association of cortical dysplasia and congenital lymphedema have been related to mutations in the RELN gene.
