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Martine Le Merrer - One of the best experts on this subject based on the ideXlab platform.
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Prenatal cortical Hyperostosis with COL1A1 gene mutation.
American journal of medical genetics. Part A, 2008Co-Authors: Agnès Kamoun-goldrat, Jelena Martinovic, Julien Saada, Pascale Sonigo-cohen, Ferechte Razavi, Arnold Munnich, Martine Le MerrerAbstract:Infantile cortical Hyperostosis (Caffey disease) is benign and self-limiting when it presents near or after birth but it is usually lethal when it presents earlier. We present the clinical, ultrasonic, radiographic, and pathologic findings in an instructive case of early onset prenatal cortical Hyperostosis. The pregnancy of a 21-year-old woman was medically terminated at 30 weeks of gestation after a diagnosis of severe osteogenesis imperfecta. Prenatal ultrasounds showed short long bones. Postmortem radiographs showed Hyperostosis in long bones, ribs and mandible. The affected skeleton showed marked bony sclerosis and ballooning of the diaphyses of the long bones with periosteal sclerosis. A complete autopsy showed characteristic histologic findings of infantile cortical Hyperostosis in affected bones. A missense mutation (3040C --> T) in exon 41 the gene encoding the alpha 1 chain of type I collagen was found in fetus pulmonary tissue. Neither the severe form nor the mild form of prenatal cortical Hyperostosis were thought to be related to collagen I mutations. Our study indicates that a heterozygous 3040C --> T mutation can also be found in lethal prenatal cortical Hyperostosis.
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Prenatal cortical Hyperostosis with COL1A1 gene mutation
American Journal of Medical Genetics Part A, 2008Co-Authors: Agnès Kamoun-goldrat, Jelena Martinovic, Julien Saada, Pascale Sonigo-cohen, Ferechte Razavi, Arnold Munnich, Martine Le MerrerAbstract:Infantile cortical Hyperostosis (Caffey disease) is benign and self-limiting when it presents near or after birth but it is usually lethal when it presents earlier. We present the clinical, ultrasonic, radiographic, and pathologic findings in an instructive case of early onset prenatal cortical Hyperostosis. The pregnancy of a 21-year-old woman was medically terminated at 30 weeks of gestation after a diagnosis of severe osteogenesis imperfecta. Prenatal ultrasounds showed short long bones. Postmortem radiographs showed Hyperostosis in long bones, ribs and mandible. The affected skeleton showed marked bony sclerosis and ballooning of the diaphyses of the long bones with periosteal sclerosis. A complete autopsy showed characteristic histologic findings of infantile cortical Hyperostosis in affected bones. A missense mutation (3040C T) in exon 41 the gene encoding the alpha 1 chain of type I collagen was found in fetus pulmonary tissue. Neither the severe form nor the mild form of prenatal cortical Hyperostosis were thought to be related to collagen I mutations. Our study indicates that a heterozygous 3040C T mutation can also be found in lethal prenatal cortical Hyperostosis. © 2008 Wiley-Liss, Inc.
Vicken Topouchian - One of the best experts on this subject based on the ideXlab platform.
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clinical variability of familial tumoral calcinosis caused by novel galnt3 mutations
American Journal of Medical Genetics Part A, 2010Co-Authors: Shoji Ichikawa, Anthony M Austin, Andrea H. Sorenson, Leah R. Padgett, Genevieve Baujat, Aksel Seyahi, Anastasia G Garoufali, Erik A Imel, Zagorka Pejin, Vicken TopouchianAbstract:The GALNT3 gene encodes GalNAc-T3, which prevents degradation of the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Biallelic mutations in either GALNT3 or FGF23 result in hyperphosphatemic familial tumoral calcinosis or its variant, Hyperostosis-hyperphosphatemia syndrome. Tumoral calcinosis is characterized by the presence of ectopic calcifications around major joints, whereas Hyperostosis-hyperphosphatemia syndrome is characterized by recurrent long bone lesions with Hyperostosis. Here we investigated four patients with hyperphosphatemia and clinical manifestations including tumoral calcinosis and/or Hyperostosis-hyperphosphatemia syndrome to determine underlying genetic cause and delineate phenotypic heterogeneity of these disorders. Mutational analysis of FGF23 and GALNT3 in these patients revealed novel homozygous mutations in GALNT3. Although the presence of massive calcifications, cortical Hyperostosis, or dental anomalies was not shared by all patients, all had persistent hyperphosphatemia, as well as inappropriately normal 1,25-dihyroxyvitamin D [1,25(OH)2D]. Three of the patients also had confirmed low circulating intact FGF23 concentrations. The four novel GALNT3 mutations invariably resulted in hyperphosphatemia due to low intact FGF23, but other clinical manifestations were variable. Therefore, tumoral calcinosis and Hyperostosis-hyperphosphatemia syndrome represent a continuous spectrum of the same disease caused by increased phosphate levels, rather than two distinct disorders.
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Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
American journal of medical genetics. Part A, 2010Co-Authors: Shoji Ichikawa, Anthony M Austin, Andrea H. Sorenson, Leah R. Padgett, Genevieve Baujat, Aksel Seyahi, Anastasia G Garoufali, Erik A Imel, Zagorka Pejin, Vicken TopouchianAbstract:The GALNT3 gene encodes GalNAc-T3, which prevents degradation of the phosphaturic hormone, fibroblast growth factor 23 (FGF23). Biallelic mutations in either GALNT3 or FGF23 result in hyperphosphatemic familial tumoral calcinosis or its variant, Hyperostosis-hyperphosphatemia syndrome. Tumoral calcinosis is characterized by the presence of ectopic calcifications around major joints, whereas Hyperostosis-hyperphosphatemia syndrome is characterized by recurrent long bone lesions with Hyperostosis. Here we investigated four patients with hyperphosphatemia and clinical manifestations including tumoral calcinosis and/or Hyperostosis-hyperphosphatemia syndrome to determine underlying genetic cause and delineate phenotypic heterogeneity of these disorders. Mutational analysis of FGF23 and GALNT3 in these patients revealed novel homozygous mutations in GALNT3. Although the presence of massive calcifications, cortical Hyperostosis, or dental anomalies was not shared by all patients, all had persistent hyperphosphatemia. Three of the patients also had inappropriately normal 1,25-dihyroxyvitamin D [1,25(OH)(2)D] and confirmed low circulating intact FGF23 concentrations. The four novel GALNT3 mutations invariably resulted in hyperphosphatemia as a result of low intact FGF23, but other clinical manifestations were variable. Therefore, tumoral calcinosis and Hyperostosis-hyperphosphatemia syndrome represent a continuous spectrum of the same disease caused by increased phosphate levels, rather than two distinct disorders.
Agnès Kamoun-goldrat - One of the best experts on this subject based on the ideXlab platform.
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Prenatal cortical Hyperostosis with COL1A1 gene mutation.
American journal of medical genetics. Part A, 2008Co-Authors: Agnès Kamoun-goldrat, Jelena Martinovic, Julien Saada, Pascale Sonigo-cohen, Ferechte Razavi, Arnold Munnich, Martine Le MerrerAbstract:Infantile cortical Hyperostosis (Caffey disease) is benign and self-limiting when it presents near or after birth but it is usually lethal when it presents earlier. We present the clinical, ultrasonic, radiographic, and pathologic findings in an instructive case of early onset prenatal cortical Hyperostosis. The pregnancy of a 21-year-old woman was medically terminated at 30 weeks of gestation after a diagnosis of severe osteogenesis imperfecta. Prenatal ultrasounds showed short long bones. Postmortem radiographs showed Hyperostosis in long bones, ribs and mandible. The affected skeleton showed marked bony sclerosis and ballooning of the diaphyses of the long bones with periosteal sclerosis. A complete autopsy showed characteristic histologic findings of infantile cortical Hyperostosis in affected bones. A missense mutation (3040C --> T) in exon 41 the gene encoding the alpha 1 chain of type I collagen was found in fetus pulmonary tissue. Neither the severe form nor the mild form of prenatal cortical Hyperostosis were thought to be related to collagen I mutations. Our study indicates that a heterozygous 3040C --> T mutation can also be found in lethal prenatal cortical Hyperostosis.
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Prenatal cortical Hyperostosis with COL1A1 gene mutation
American Journal of Medical Genetics Part A, 2008Co-Authors: Agnès Kamoun-goldrat, Jelena Martinovic, Julien Saada, Pascale Sonigo-cohen, Ferechte Razavi, Arnold Munnich, Martine Le MerrerAbstract:Infantile cortical Hyperostosis (Caffey disease) is benign and self-limiting when it presents near or after birth but it is usually lethal when it presents earlier. We present the clinical, ultrasonic, radiographic, and pathologic findings in an instructive case of early onset prenatal cortical Hyperostosis. The pregnancy of a 21-year-old woman was medically terminated at 30 weeks of gestation after a diagnosis of severe osteogenesis imperfecta. Prenatal ultrasounds showed short long bones. Postmortem radiographs showed Hyperostosis in long bones, ribs and mandible. The affected skeleton showed marked bony sclerosis and ballooning of the diaphyses of the long bones with periosteal sclerosis. A complete autopsy showed characteristic histologic findings of infantile cortical Hyperostosis in affected bones. A missense mutation (3040C T) in exon 41 the gene encoding the alpha 1 chain of type I collagen was found in fetus pulmonary tissue. Neither the severe form nor the mild form of prenatal cortical Hyperostosis were thought to be related to collagen I mutations. Our study indicates that a heterozygous 3040C T mutation can also be found in lethal prenatal cortical Hyperostosis. © 2008 Wiley-Liss, Inc.
Patty Stuart-macadam - One of the best experts on this subject based on the ideXlab platform.
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Porotic Hyperostosis: a new perspective.
American journal of physical anthropology, 1992Co-Authors: Patty Stuart-macadamAbstract:Porotic Hyperostosis is a paleopathologic condition that has intrigued researchers for over a century and a half. It is now generally accepted that anemia, most probably an iron deficiency anemia, is the etiologic factor responsible for lesion production. Although there can be a number of factors involved in the development of iron deficiency anemia, a dietary explanation has often been invoked to explain the occurrence of porotic Hyperostosis in past human skeletal populations. In fact, porotic Hyperostosis has been referred to as a “nutritional” stress indicator. Traditionally those groups with a higher incidence of porotic Hyperostosis have been considered to be less successful in adapting to their environment or more nutritionally disadvantaged than other groups. A new perspective is emerging that is challenging previous views of the role of iron in health and disease, thus having profound implications for the understanding of porotic Hyperostosis. There is a new appreciation of the adaptability and flexibility of iron metabolism; as a result it has become apparent that diet plays a very minor role in the development of iron deficiency anemia. It is now understood that, rather than being detrimental, hypoferremia (deficiency of iron in the blood) is actually an adaptation to disease and microorganism invasion. When faced with chronic and/or heavy pathogen loads individuals become hypoferremic as part of their defense against these pathogens, thus increasing their susceptibility to iron deficiency anemia. Within the context of this new perspective porotic Hyperostosis is seen not as a nutritional stress indicator, but as a indication that a population is attempting to adapt to the pathogen load in its environment.
K. H. Bok - One of the best experts on this subject based on the ideXlab platform.
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Focal Hyperostosis on CT of Sinonasal Inverted Papilloma as a Predictor of Tumor Origin
AJNR. American journal of neuroradiology, 2007Co-Authors: Donh Kyung Lee, Seung-kyu Chung, Hun Jong Dhong, Hye-jin Kim, Hyungjin Kim, K. H. BokAbstract:BACKGROUND AND PURPOSE: To evaluate the CT characteristics of focal Hyperostosis in patients with sinonasal inverted papilloma and to correlate these characteristics with the detection of the origins of tumors. MATERIALS AND METHODS: Paranasal sinus and nasal cavity CT images of 76 patients were reviewed retrospectively to detect areas within which there was focal Hyperostosis. We correlated the sites on the CT scans within which there was focal Hyperostosis with the origin of the tumors described in the corresponding patient9s medical records. We also evaluated the CT features of focal Hyperostosis according to the origin of tumors. RESULT: Surgical evaluation of 55 lesions with focal Hyperostosis in CT images revealed that 49 of these lesions coincided with the actual origin of tumor. The CT-based determination of the locations of the areas of focal Hyperostosis corresponded to the actual tumor origin in 89.1% of cases. Especially in cases with focal Hyperostosis within the frontal, maxillary, sphenoid, and posterior ethmoid sinuses, areas of focal Hyperostosis corresponded to the origin of tumor without exception. In the evaluation of the CT features of focal Hyperostosis, 2 patterns of localized bone thickening were noted. Plaquelike bone thickening was seen mainly when focal Hyperostosis involved the lateral wall of the nasal cavity. On the other hand, cone-shaped bone thickening was seen only in the walls of the paranasal sinuses or the bony septum. CONCLUSIONS: A high correlation between the origin of the inverted papilloma and focal Hyperostosis on CT might facilitate preoperative prediction of tumor origin by radiologists and rhinologists.