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Salman W D - - 2010
Malignancy in struma ovarii is a rare form of ovarian germ cell tumour. Because of its rarity, the diagnosis and management of the tumour have not been clearly defined. We present a case of 67- year-old female with papillary carcinoma arising in struma ovarii and review the literature on malignancy ...
Al-Jamali J - - 2010
Benign fibrous histocytoma of bones is a very rare tumour and only a few cases have been reported. We report a case of 40-year-old patient with no significant previous medical history who presented with a painful lesion in his right wrist joint. Incision biopsy was done and there was a ...
Zhong Yi - - 2010
Calcifying epithelial odontogenic tumour (CEOT) is a rare and benign odontogenic neoplasm that affects the jaws. Here we present a maxillary case of CEOT showing features of malignant transformation, and a review of the literature.
Dalmia Sanjay - - 2010
We describe a rare case of small bowel infarction due to fibro muscular dysplasia in superior mesenteric artery in a young patient. A 28 year old Asian female presented with acute onset left sided abdominal pain and watery diarrhea. She had a laparotomy due to further deterioration. It showed infracted ...
Kean J - - 2010
The following report describes a case of mild frontonasal dysplasia, a rare congenital anomaly affecting the nose and frontal bone. Our patient was referred at 2 months of age with a complex nasal skin and tip deformity. This report outlines management of this patient and reviews the literature with regard ...
Gupta Abha - - 2009
We describe two cases of chorioretinal dysplasia and microcephaly and review the current literature regarding this topic.
Vogel Tobias - - 2009
Dysplasia epiphysealis hemimelica (DEH) or Trevor's Disease is a very rare disease with an estimated incidence of one in 1.000.000. The majority of cases reported affect the lower limb and only 25 case reports of 33 cases with affection of the upper limb have been published. Here we present a ...
Giblin Erica M - - 2009
The presence of multiple esophageal polyps on endoscopy is a rare entity. Most of the literature cited on this phenomenon is based on case reports and small series. A large proportion of the literature describes one or two polyps, with the majority of polyps occurring in the area of the ...
Jack Hannah - - 2009
Oral epithelial dysplasia (OED) is a premalignant lesion which has an unpredictable course of progression. Its management has remained controversial due to a lack of high-quality prospective studies evaluating the different treatment modalities.1 We present a patient with a long history of OED which subsequently transformed into malignancy. The clinical ...
Shawky, RM; ; rabahshawky@hotmail.com
Frontofacionasal dysplasia (FFND) is a rare group of disorders, characterized by ocular hypertelorism and frontonasal process anomalies in which clinical and etiological heterogeneity have been recognized since the first review by Gollop 1981.1 Frontofacionasal dysplasia is inherited as an autosomal recessive genetic trait. We report on a 10 month old ...
Oliphant R - - 2009
Temporomandibular joint dislocation is not a common presentation to the emergency department but it is one that requires prompt diagnosis and reduction. This is thought to be the first reported case of spontaneous bilateral temporomandibular joint dislocation after routine pulmonary function testing. The management of the case is discussed and ...
Keskin Mustafa - - 2009
BACKGROUND: Both fibrous dysplasia (FD) and ameloblastoma are benign but locally aggressive tumours of the craniofacial region. In this case report, we present the unique synchronous occurrence of these two tumours in the facial skeleton. CASE REPORT: A 16-year-old woman presented with complaints of swelling of the upper right face ...
Kaul S - - 2008
Ectodermal dysplasia is a hereditary syndrome characterized by dysplasia of tissues of ectodermal origin (hair, skin, nails, and teeth) and occasionally, dysplasia of mesodermally derived tissues. The triad of nail dystrophy (onychodysplasia), alopecia, or hypotrichosis (scanty, fine, light hair on the scalp and eyebrows) and palmoplantar hypohidrosis is usually accompanied ...
Tezer F Irsel - - 2008
Epilepsia partialis continua (EPC) is a rare form of focal motor status epilepticus. There is typically a predilection for facial and distal limb involvement, but rarely trunk or abdomen muscles may be affected. Rarely, EPC may also present in association with cortical dysplasia. In this report, we describe the clinical, ...
Porwal Ragini - - 2008
We report a case of hemimaxillofacial dysplasia followed in our clinic for 34 years. A recent literature review has brought to our attention that the subject may have a variant of hemimaxillofacial dysplasia, but with some unique features. The reconstruction procedures are detailed, and long-term follow-up findings are described.
Shen Zheng - - 2009
BACKGROUND: Cleidocranial dysplasia (CCD) is an autosomal-dominant skeletal dysplasia syndrome that is characterized by widely patent calvarial sutures, clavicular hypoplasia, supernumerary teeth, and short stature. It is caused by mutations of the transcription factor RUNX2, which is known as a major regulator of bone differentiation. OBJECTIVE: To report on 3 ...
Sayeed Siraj A - - 2008
Anatomic variations in the insertion of the long head of the biceps tendon and superior labral complex have been described (Erickson et al. [1992] AJR Am. J. Roentgenol. 158:1091-1096; Kreitner et al. [1998] AJR Am. J. Roentgenol. 170:599-605; Mariani et al. [1997] Arthroscopy 13:499-501; Vangsness Jr. et al. [1994] J. ...
Macdonald-Jankowski D S - - 2008
OBJECTIVES: To evaluate the principal features of focal cemento-osseous dysplasia (FocCOD) by systematic review (SR) and to compare their frequencies between four global groups. METHODS: Alternative names for FocCOD were used as search terms. The databases searched were the PubMed interface of Medline and LILACS (Literature Index for Latin-America and ...
Khanna Monica - - 2008
OBJECTIVES: The aim of this study was to correlate the imaging features with surgical histology for tibial osteofibrous dysplasia (OFD), osteofibrous dysplasia-like adamantinoma (OFD/LA) and classical adamantinoma and to determine the additional role of imaging in suggesting a correct diagnosis in cases of needle biopsy misdiagnosis. MATERIALS AND METHODS: This ...
Albert Ladislau L - - 2009
BACKGROUND: Most cases of generalized hyperostosis of the skull are associated with Camurati-Engelmann disease, craniodiaphyseal dysplasia, Worth-type endosteal hyperostosis, or sclerosteosis. Infrequently, a Chiari malformation may also be described. We present the case of a patient with acquired Chiari malformation secondary to hyperostotic skull formation whose findings did not fit ...
Cai C - - 2008
Chiari malformation is commonly considered a congenital condition. To our knowledge, reports of progressively symptomatic Chiari Iota malformation with craniometaphyseal dysplasia are rare. The authors present a case of progressively symptomatic Chiari Iota malformation occurring in an 11-month-old infant with craniometaphyseal dysplasia. The patient presented with a typical facial appearance ...
Geneviève D - - 2008
Metatropic dysplasia (MD-OMIM: 156530 and 250600) is a rare chondrodysplasia characterized by short limbs with limitation and enlargement of joints and usually severe kyphoscoliosis, first described in 1893. Up until now, 81 other patients have been reported. The phenotypic variability of MD has led to a classification based on radiological ...
Parth R A - - 2008
Two cases of severe scapulohumeral osteoarthritis in Miniature ponies are described, one bilateral and the other unilateral. The condition is thought to occur in miniature breeds as a result of scapulohumeral dysplasia. The presentation in one of the ponies was unusal: it refused to pick up either fore limb, with ...
Cavalcante Ana Sueli Rodrigues - - 2008
Florid cemento-osseous dysplasia (FCOD) is a non-neoplastic condition of the jaws that is not associated with inflammation of the pulp or periodontal tissue. This article reports on three cases that were diagnosed as FCOD, demonstrating the importance of both clinical and radiographic diagnosis and the clinical management of these lesions.
Zoccali Carmine - - 2009
The association between muscular myxomas and fibrous dysplasia is a rare condition known as Mazabraud's syndrome, as reported by Henschen (Verh Dtsch Ges Pathol 21:93-97, 1926) and Mazabraud A and Girard (Rev Rhum Mal Osteoartic 24(9-10):652-659, 1957). We report a case of a 32-year-old woman with multiple myxomas in her ...
Kaissi Ali Al - - 2008
Enchondromatosis represent a heterogenous group of disorders. Spranger et al attempted a classification into 6 types: Ollier disease, Maffuci syndrome, metachondromatosis, spondyloenchondrodysplasia, enchondromatosis with irregular vertebral lesions, and generalized enchondromatosis. Halal and Azouz added 3 tentative categories to the 6 in the classification of Spranger et al. We report on ...
McBrien Angela - - 2008
We report a case of common arterial trunk with thanatophoric dysplasia. The skeletal dysplasia was diagnosed during fetal life. Following early induction of labour, there was a post-mortem diagnosis of type 2 common arterial trunk. This report includes the radiological and post-mortem findings. To our knowledge, thanatophoric dysplasia has never ...
Inui Shigeki - - 2008
BACKGROUND: Acute diffuse and total alopecia of the female scalp (ADTAFS) is a new subtype of alopecia areata that is characterized by rapid progression of diffuse alopecia of the female scalp, marked female predominance and a favorable prognosis. Differential diagnosis of other types of diffuse alopecia such as female pattern ...
Mac-Thiong Jean-Marc - - 2008
A classification of lumbosacral spondylolisthesis has been proposed recently. This classification describes eight distinct types of spondylolisthesis based on the slip grade, the degree of dysplasia, and the sagittal sacro-pelvic balance. The objectives of this study are to assess the reliability of this classification and to propose a new and ...
Ngo C - - 2007
A series of five cases of skeletal dysplasia is reported in which the diagnosis was reached at the 11-14-week routine ultrasound examination in our referral center. All five cases had increased nuchal translucency thickness (NT) associated with bone abnormalities. We review the current literature on skeletal dysplasia in the first ...
Sakamoto Akio - - 2007
BACKGROUND: Congenital pseudarthrosis of the tibia (CPT) is frequently, but not always, associated with neurofibromatosis type 1 (NF1). Double inactivation of the NF1 gene has been reported to be the pathogenesis of CPT in NF1 cases. METHODS: We analyzed the loss of heterozygosity (LOH) of the NF1 gene in cases ...
Indu P S - - 2007
Autopsy was performed on a fetus of 6 months gestation with sonologic features of skeletal dysplasia to arrive at a pathological diagnosis. Radiograph of fetus was taken which showed short limb bones, curved femora, flattened vertebral bodies with wide intervertebral spaces, bell-shaped chest, short ribs with flared ends which are ...
Akeredolu P A - - 2007
Case report of a 20 year old female patient who presented with Binder's maxillonasal dysplasia. She presented with completely missing premaxilla, nasal bone and septum, there was however no associated cardiac abnormalities, mental retardation or other skeletal deformities. Her principal complaint was the associated missing incisors. The incisors and the ...
Kent Jerrod S - - 2007
Setleis syndrome is a rare ectodermal dysplasia with characteristic ophthalmic findings. We describe the first 2 reported cases in Canadian individuals of Aboriginal descent. Although most ophthalmic findings are benign, it is important to recognize the clinical significance for management and genetic counselling. We postulate an autosomal dominant inheritance in ...
Noffke Claudia E E - - 2007
OBJECTIVE: The purpose of the study was to analyze the clinical and radiographic features of central odontogenic myxomas (OM) of the jaws diagnosed over 23 years in a black South African patient sample. STUDY DESIGN: Records of 30 cases of OMs with radiographs of diagnostic quality were retrieved from 52 ...
Sergay Amanda - - 2007
We describe a 4-year-old, otherwise healthy boy with a congenital history of a perioral and labial segmental café-au-lait macule, who was noted to have unilateral localized gingival hyperpigmentation that aligned with the café-au-lait macule. This case is highly illustrative of the embryologic timing of the genetic event locally, which leads ...
Towle H A - - 2007
In this case report, we describe the clinical and radiographic features of a litter of kittens affected with complex syndactyly. We also provide guidelines for the diagnosis, possible treatment and prevention of propagation of this condition. This is the first report of syndactyly in a litter of kittens and syndactyly ...
Rockman Roy A - - 2007
BACKGROUND: Ectodermal dysplasia (ED) is a group of heterogeneous disorders that result in hypodontia. In pediatric patients with ED, using prostheses to restore form and function can be a challenge. CASE DESCRIPTION: The authors present a case report that demonstrates a technique using magnets to enhance the retention of maxillary ...
Nishimura T - - 2007
We report a 72-year-old woman with a type-1 intra-osseous ganglion in the proximal humerus, extending to the bone surface. We conducted a systemic review of intra-osseous ganglion cases in Japan to identify clinical features and pathogenesis of this condition. The anatomical distribution between intra-osseous ganglia without a communicating soft tissue ...
Smith Audrey - - 2007
Osteocraniostenosis is a rare, lethal skeletal dysplasia with a distinctive phenotype and diagnostic X-ray findings. We present a case of an infant who was antenatally detected to have dysmorphic facial features as early as 22 weeks of gestation. Subsequent postnatal investigations confirmed the diagnosis of osteocraniostenosis. These antenatal findings have ...
Pashapour N - - 2007
We determined the time till diagnosis of developmental dysplasia of the hip in Urmia, Islamic Republic of Iran. A total of 1100 infants (530 boys and 570 girls) aged 1.5-4.5 months attending university outpatient clinics for vaccination during June 2001 to January 2002 were examined for developmental dysplasia of the ...
Thomas Kevin R - - 2007
BACKGROUND: Fibromuscular dysplasia (FMD) is an idiopathic disease of small- and medium-sized arteries, involving one or more vascular beds. Patients may present with a range of symptoms, which may not readily lead to a diagnosis of FMD. While maternal cocaine abuse during pregnancy has previously been associated with vascular alterations ...
Medow Joshua E - - 2007
BACKGROUND CONTEXT: Multiple lytic lesions of the spine usually represent metastatic or infectious disease processes. PURPOSE: To describe an extremely rare presentation of an uncommon disease process. STUDY DESIGN/SETTING: Case report/university hospital. METHODS: We describe the management of a patient who presented with a pathological fracture of C3 and multiple ...
Lichiardopol Corina - - 2007
The Holt-Oram syndrome or atriodigital dysplasia is an autosomal dominant disorder with near complete penetrance and variable expression, caused by mutations of the TBX5 gene (12q24.1), affecting one in 100 000 live births. 60% of cases are familial and 40% sporadic. We present the case of a 24 years old ...
Francis Babu - - 2007
Placental mesenchymal dysplasia is an uncommon disorder in which the placenta is enlarged with abnormal, large, and often cystic villi with dilated and/or thick-walled vessels. These placental changes can mimic a partial hydatidiform mole but in contrast to a partial mole can coexist with a fully viable fetus. Fetal anatomical ...
Kirkpatrick A W - - 2007
The Secondary Abdominal Compartment Syndrome (SACS) refers to cases of the ACS that do not originate from the abdominopelvic region. With greater awareness of the physiologic consequences of raised intra-abdominal hypertension (IAH), cases of the SACS are being increasingly described. The prior treatment or the presence of a partially open ...
Odze Robert D - - 2006
Telepathology (TP) is the practice of evaluating pathology cases by the digital transmission of diagnostic slides as either static pictures (static TP) or by a continuous flow of pictures from a robotic microscopy (dynamic TP). The diagnostic efficacy of dynamic TP-based consultation services has not been widely tested. Dysplasia arising ...
Singnurkar Amit - - 2006
Fibrous dysplasia commonly involves the skull in both its monostotic and polyostotic variants. We present two cases of fibrous dysplasia involving the sphenoid wing, which were strikingly similar in their bone scan appearance. Both patients demonstrated intense increased uptake of Tc-99m MDP in a pattern reminding us of a "pirate ...
Rusbridge C - - 2006
Concurrent occurrence of occipital dysplasia and occipital hypoplasia in two dogs is described in this report. Occipital hypoplasia results in reduced volume of the caudal fossa, leading to overcrowding of the neural structures and, in severe cases, development of syringomyelia. In occipital dysplasia, there is a failure of complete ossification ...
Proschek D - - 2007
Monostotic fibrous dysplasia of the spine is a rare entity. Only 26 cases, of which 11 were located in the cervical spine, are to be found in the literature. We report a 56-year-old male patient with cervicobrachialgia of half year's duration. Radiographs showed a diffuse destruction of the vertebral body ...
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