نتایج جستجو برای: hungry bone syndrome

تعداد نتایج: 906164  

Journal: :acta medica iranica 0
zahra hadipour department of medical genetics, sarem cell research center & hospital, tehran, iran. yousef shafeghati department of medical genetics, sarem cell research center & hospital, tehran, iran. and genetics research center, university of social welfare and rehabilitation sciences, tehran, iran. fatemeh hadipour department of medical genetics, sarem cell research center & hospital, tehran, iran.

the yunis-varón syndrome represents a rare autosomal recessive syndrome of easy recognition characterized by defective growth of the cranial bone along with complete or partial absence of the clavicles (cleidocranial dysplasia), absence of thumbs and halluces, distal aphalangia, ectodermal anomalies, growth retardation and poor outcome. the molecular genetic basis is unknown. here, we report an...

Sagliker syndrome is a rare form of renal osteodystrophy resulted from untreated secondary hyperparathyroidism. It is described by severe skeletal deformities, high level of PTH in patients with chronic renal failure, and deformed face. This paper reports a 44-year-old male patient with the mentioned characteristics. In addition to the unique clinical features, high levels of ALP and PTH hormon...

پایان نامه :وزارت بهداشت، درمان و آموزش پزشکی - دانشگاه علوم پزشکی و خدمات بهداشتی درمانی مشهد - دانشکده دندانپزشکی 1391

مقدمه و هدف : یکی از عوامل مهم و تاثیرگذارجهت دستیابی به انطباق بدون تنش در پروتزهای متکی بر ایمپلنت، انجام قالبگیری دقیق می باشد. دو روش قالبگیری مستقیم و غیرمستقیم برای انتقال موقعیت ایمپلنت از دهان به کست کار وجود دارد. هدف از انجام این مطالعه بررسی دقت وسایل رایج جهت قالبگیری به روش غیرمستقیم درسه نوع سیستم مختلف ایمپلنت دندانی و مقایسه آنها با روش مستقیم می باشد. مواد و روش ها : در...

Journal: :AJNR. American journal of neuroradiology 2008
J Kim E Y Kim J S Lee W S Lee H N Kim

BACKGROUND AND PURPOSE Cornelia de Lange syndrome is a rare developmental malformation syndrome with a high prevalence of hearing impairment. The purposes of this study were to describe the characteristic temporal bone CT findings in patients with Cornelia de Lange syndrome and to correlate audiometric data with radiologic findings in these patients. MATERIALS AND METHODS Ten children (6 girl...

2017
Sa A. Wang Robert P. Hasserjian Wayne Tam Albert G. Tsai Julia T. Geyer Tracy I. George Kathryn Foucar Heesun J. Rogers Eric D. Hsi Bryan A. Rea Adam Bagg Carlos E. Bueso-Ramos Daniel A. Arber Srdan Verstovsek Attilio Orazi

Chronic eosinophilic leukemia, not otherwise specified can be difficult to distinguish from idiopathic hypereosinophilic syndrome according to the current World Health Organization guideline. To examine whether the morphological features of bone marrow might aid in the differential diagnosis of these two entities, we studied a total of 139 patients with a diagnosis of chronic eosinophilic leuke...

Journal: :Journal of nuclear medicine : official publication, Society of Nuclear Medicine 2015
Qingqing Pan Jian Li Fang Li Daobin Zhou Zhaohui Zhu

UNLABELLED POEMS (polyneuropathy, organomegaly, endocrinopathy, M protein elevation, and skin changes) syndrome is a rare paraneoplastic syndrome caused by an underlying plasma cell disorder. The patients usually present with multisystemic involvement. Thus, we performed a study to investigate the role of (18)F-FDG PET/CT in characterizing POEMS syndrome. METHODS Ninety-one untreated patients...

Journal: :Diagnostic and interventional radiology 2013
Bangkim Chandra Khangembam Sellam Karunanithi Punit Sharma Krishan Kant Agarwal Abhinav Singhal Varun Singh Dhull Chandrasekhar Bal Rakesh Kumar

Proteus syndrome is an extremely rare genetic disorder characterized by an asymmetrical overgrowth of skin, bones, muscles, fatty tissues, and blood and lymphatic vessels. We present a case of a six-year-old boy with proteus syndrome who underwent bone scintigraphy for suspected osteomyelitis. Bone scintigraphy ruled out osteomyelitis and suggested cellulitis. In addition, it demonstrated strik...

خرمی نژاد, سامان, ملکی, محمدصادق,

Mc Hugh has reported that incidence of neonatal facial nerve Paralysis in 1969, has been 0.23%. Infantile facial nerve paralysis has been categorized to three groups: 1- Congenital (Developemental) facial nerve paralysis 2- Prenatal acquired facial nerve paralysis. 3- Postnatal acquired facial nerve paralysis The Mobius syndrome may be the most famous among the causes of congenital facial nerve...

2009
O ’ Keefe

INTRODUCTION: Bone remodeling, a dynamic process involving bone resorption followed by bone formation, takes place throughout life to maintain bone homeostasis. Osteoporosis pseudoglioma (OPPG) syndrome and high bone mass (HBM) syndrome are both mapped to the locus of Lrp5, a receptor for Wnt ligands in activation of β-catenin signaling (1). OPPG patients harbor inactivating mutations in the Lr...

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