نتایج جستجو برای: hemihypertrophy
تعداد نتایج: 154 فیلتر نتایج به سال:
BACKGROUND Proteus syndrome is a very rare condition with less than 100 confirmed cases reported worldwide. We report a case of Proteus syndrome in a two-year-old male who has hemophilia A comorbidity. CASE PRESENTATION A two-year-old male patient was admitted with the chief complaint of severe bleeding in mouth cavity after trauma for two weeks. At admission he was found to have petechiae on...
INTRODUCTION Beckwith-Wiedemann syndrome is an overgrowth syndrome that is characterized by hypoglycemia at birth, coarse face, hemihypertrophy and an increased risk to develop embryonal tumors. In approximately 15% of patients, the inheritance is autosomal dominant with variable expressivity and incomplete penetrance, whereas the remainder of Beckwith-Wiedemann syndrome cases are sporadic. Bec...
INTRODUCTION Klippel-Trenaunay syndrome is a rare congenital mesodermal abnormality characterized by bone and soft tissue hypertrophy, extensive hemangioma and venous abnormalities. We report the case of a patient with two additional rare clinical manifestations in the background of Klippel-Trenaunay syndrome, namely, acanthocytosis and splenic and retroperitoneal lymphangioma. CASE PRESENTAT...
Background and purpose - When children with irregular body proportions or asymmetric limbs present, it may be unclear where the pathology is located. An improved understanding of the clinical ratio between upper extremity, lower extremity, and spine length may help elucidate whether there is disproportion between the trunk and limbs, and whether there is a reduction deficit of the shorter limb ...
The Proteus syndrome (PS) is a complex and rare congenital hamartomatous condition with a wide range of malformations. Little is reported about spinal deformity associated with this syndrome. This study presents a case of scoliosis occurring in the setting of PS and explores the possible mechanisms between the 2 diseases. The patient is a 17-year-old Chinese female with scoliosis and hemihypert...
The syndrome of exomphalos, macroglossia, postnatal somatic gigantism and severe hypoglycaemia in various combinations was first described in seven infants by Beckwith (1963) and Beckwith et al. (1964). At necropsy the main features were cytomegaly of the foetal adrenal cortex, renal medullary dysplasia, and hyperplasia of the pancreas and kidneys. Wiedemann (1964) reported three siblings of a ...
BACKGROUND Wilms Tumor (WT) can occur in association with tumor predisposition syndromes and/or with clinical malformations. These associations have not been fully characterized at a clinical and molecular genetic level. This study aims to describe clinical malformations, genetic abnormalities, and tumor predisposition syndromes in patients with WT and to propose guidelines regarding indication...
CONTEXT Beckwith-Wiedemann syndrome is a complex and heterogeneous overgrowth syndrome with genetic and epigenetic alterations, involving genomic imprinting and cancer predisposition. Isolated hemihyperplasia is of unknown cause, and it may represent a partial or incomplete expression of Beckwith-Wiedemann syndrome. OBJECTIVES A clinical and molecular review and proposal of the use of an expe...
We present a case of a 3½-year-old girl diagnosed as Proteus syndrome with severe cosmetic disfigurement-macrodactyly, hemi-hypertrophy of the face and limbs, megalencephaly, lymph edema of both hands and feet along with severe global developmental delay. She was found to have severe recalcitrant epilepsy and also primary hypothyroidism; the association of which is not mentioned in the previous...
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