Zobrazeno 1 - 10
of 1 154
pro vyhledávání: '"hemihypertrophy"'
Publikováno v:
Heliyon, Vol 10, Iss 13, Pp e33915- (2024)
Background: Hemihypertrophy (HH) is a rare congenital malformation usually recognized at birth. It is often diagnosed due to impaired aesthetics and mobility caused by asymmetry of the face, body, or limbs. Some patients are diagnosed due to the pres
Externí odkaz:
https://doaj.org/article/d91b3a0a3c9f40e3ac7d92da71a8785f
Publikováno v:
Journal of Clinical and Diagnostic Research, Vol 18, Iss 05, Pp 01-03 (2024)
Klippel-Trenaunay Syndrome (KTS) is a sporadic condition characterised by the clinical triad of capillary malformation, atypical varicosity, and soft-tissue and bony hypertrophy. This triad was observed in the current case. Despite being initially de
Externí odkaz:
https://doaj.org/article/264be7b83aaf4402a0fe44d34c3275c9
Autor:
Yo Sato, Yusuke Watanabe, Takafumi Morisaki, Saori Hayashi, Yoshiki Otsubo, Yurina Ochiai, Kimihisa Mizoguchi, Yuka Takao, Mai Yamada, Yusuke Mizuuchi, Masafumi Nakamura, Makoto Kubo
Publikováno v:
Surgical Case Reports, Vol 10, Iss 1, Pp 1-7 (2024)
Abstract Background Beckwith–Wiedemann syndrome (BWS) is a genomic imprinting disorder caused by diverse genetic and/or epigenetic disorders of chromosome 11p15.5. BWS presents with a variety of clinical features, including overgrowth and an increa
Externí odkaz:
https://doaj.org/article/468ebdc36d054de5b3cdf6fe9280bded
Publikováno v:
Clinical Case Reports, Vol 12, Iss 2, Pp n/a-n/a (2024)
Key Clinical Message Lipid hemihypertrophy should be considered in the differential diagnosis of neonatal asymmetry. Early recognition and further evaluation for associated disorders are important for appropriate management and surveillance of potent
Externí odkaz:
https://doaj.org/article/701229d608c14b40adf8e56a8ba86e86
Publikováno v:
Radiology Case Reports, Vol 18, Iss 9, Pp 2966-2970 (2023)
Beckwith-Wiedemann syndrome (BWS) is a rare imprinting disorder and overgrowth syndrome with a prevalence of 1 in 10,000 live births. It is characterized by predilection for embryonal tumor growth, especially Wilms tumor (WT), and manifestations like
Externí odkaz:
https://doaj.org/article/e95fe6246dea4e039652df94191dcb17
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Fetal Wilms tumor (WT) is extremely rare, but with advances in fetal imaging, more cases are being reported. The management of these cases remains challenging. Herein, we present the case of a full-term female infant diagnosed antenatally at 32 weeks
Externí odkaz:
https://doaj.org/article/adb80fe5b67547ea8c02730e96dd5111
Autor:
Konomi Shimoda, Hiroyuki Iwasaki, Yoko Mizuno, Masafumi Seki, Masakazu Mimaki, Motohiro Kato, Aya Shinozaki-Ushiku, Harushi Mori, Seishi Ogawa, Masashi Mizuguchi
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by a mutation in either of the two tumor suppressor genes, TSC1 and TSC2. Due to dysregulated activity of the mammalian target of rapamycin (mTOR) pathway, hamartomas or benign
Externí odkaz:
https://doaj.org/article/8d7720d34b264c62bb98f5358f6e3380
Autor:
Woo-Jong Kim, Byungsung Kim, Jae-Hwi Nho, Junbum Kim, Chang-Hwa Hong, Sai-Won Kwon, Young Choi, Tae-Gyun Kim, Changeui Lee, Ki-Jin Jung
Publikováno v:
Surgeries, Vol 3, Iss 3, Pp 242-247 (2022)
Overgrowth syndromes generally present with inherent health concerns and, in some instances, an increased risk of malignant intra-abdominal tumors, such as Wilms tumor or hepatoblastoma. There are various types of hyperplasia, but the crossed type is
Externí odkaz:
https://doaj.org/article/68581cb73b2b4126b5346c334309d3b5
Publikováno v:
Indian Journal of Dermatology, Vol 68, Iss 5, Pp 558-562 (2023)
Pigmentary mosaicism (PM) is a clinical condition of dyspigmentation with chromosomal abnormality. PM presents with both cutaneous and extracutaneous manifestation. Hypomelanosis of Ito and linear and whorled nevoid hypermelanosis are syndromic disor
Externí odkaz:
https://doaj.org/article/f7cee782d5174e4fa7ad8467f5d3a2e2
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