نتایج جستجو برای: congenital abnormality

تعداد نتایج: 242090  

Journal: :acta medica iranica 0
saeid morowati research center for human genetics, baqiyatallah university of medical sciences, tehran, iran. mobin yasini2 research center of molecular biology, baqiyatallah university of medical sciences, tehran, iran. reza ranjbar research center of molecular biology, baqiyatallah university of medical sciences, tehran, iran. ali asghar peivandi faculty of medicine, shahid beheshti university of medical sciences, tehran, iran. mohsen ghadami medical genetics department, faculty of medicine, tehran university of medical sciences, tehran, iran.

ankyloglossia (tongue-tie) is a congenital anomaly with a prevalence of 4-5% and characterized by an abnormally short lingual frenulum. for unknown reasons the abnormality seems to be more common in males. the pathogenesis of ankyloglossia is not known. the authors report a family with isolated ankyloglossia inherited as an autosomal dominant or recessive trait. the identification of the defect...

2016
G. B. Archer

A Mohammedan woman, aged 19, complained of abdominal pain of a very distressingcharacter. A tumour was present in the lower abdomen gradually increasing in size; and no menstruation. The woman had been deserted by her husband. Examination showed a movable tumour in the position and size of a fiva month's pregnancy. The vagina was shallow, about li inches in depth, and a blind sac. The cervical ...

Journal: :Blood 1955
R SCHMID S SCHWARTZ R D SUNDBERG

ECENT STUDIES” 2, 3 have emphasized that in human beings, photosensitivity occurs as a result of two fundamentally different disturbances of porphyrin metabolism. In porphyria cutanea tarda, in which the excessive porphyrin formation is believed to take place in the liver, symptoms are seldom manifest before adult life.’ Its porphyria erythropoietica (congeisital, photosensitive), where large a...

2001
Peter Hammond Tim J. Hutton Michael A. Patton Judith E. Allanson

INTRODUCTION One in fifty children is born with significant congenital abnormality [1]. Some have multiple anomalies constituting a specific dysmorphic syndrome. Of 5,000 or so dysmorphic syndromes, over 700 involve dental, oral or craniofacial differences. Dysmorphic craniofacial features include extended distance between eyes (telecanthus) or pupils (hypertelorism); inner/outer eye corners at...

Journal: :QJM : monthly journal of the Association of Physicians 2012
G Martín-Sánchez M Aller J L Hernández

A 77-year-old Caucasian woman presented to our hospital with difficulty swallowing solid food and weight loss during the past 2 years. She did not drink alcohol or smoke. Her physical examination and her past medical history were unremarkable. Radiograph of the chest showed a right-sided aortic arch (Figure 1). A barium esophagogram was performed. A double indentation at the level of the aortic...

Journal: :Stroke 1991
T Imamura T Yoshida A Yamadori T Matsuo

2. Harrison MJG, Weisblatt E: A sex difference in the effect of aspirin on "spontaneous" platelet aggregation in whole blood. Thromb Haemost 1983^0:773-774 3. ISIS-2 Collaborative Group: Randomised trial of intravenous streptokinase, oral aspirin, both or neither among 17,187 cases of suspected acute myocardial infarction: ISIS-2. Lancet 1988; 2:349-360 4. The Canadian Cooperative Study Group: ...

Journal: :Archives of disease in childhood 1961
P A RING

Congenital defects of the femur vary from simple hypoplasia of the bone to complete absence. Classification of these defects has been suggested by Nilsonne (1928) and by Mouchet and Ibos (1928), but neither has met with general acceptance. In more recent years Golding (1939, 1948) has demonstrated the close association of the short femur with congenital coxa vara, and has emphasized that these ...

2016
Elizabeth Moschiano Gordana Raca Cecilia Fu Paul K. Pattengale Mathew J. Oberley

Congenital leukemia is a rare event with a poor prognosis. We report a case of congenital leukemia with a cryptic rearrangement of MLL demonstrable only with RT-PCR. Interestingly, with treatment, the patient showed lineage plasticity of the leukemia with the development of monocytic lineage blasts after presenting with B-cell lineage blasts. This was heralded by the development of a new clonal...

Journal: :Texas Heart Institute journal 2008
Juan Carlos Rozo Dajhana Medina Cesar Guerrero Ana Maria Calderon Andrés Mesa

Accessory mitral valve is a rare congenital abnormality and an unusual cause of subvalvular obstruction of the left ventricular outflow tract. Accessory mitral valves are usually detected in children due to symptomatic obstruction; isolated nonobstructive accessory mitral valve is rarely seen in adults. We describe the echocardiographic diagnosis of accessory mitral valve as an isolated congeni...

2012
Anning Feng Hourong Cai Qi Sun Yifen Zhang Lulu Chen Fanqing Meng

UNLABELLED Congenital cystic adenomatoid malformation (CCAM), also named congenital pulmonary airway malformation (CPAM), is a congenital abnormality of lung which is uncommon in adults. Here we present 2 adult cases of CCAM with unusual clinical and pathologic findings. One case was complicated with aspergillosis which was seldom reported. The other case was suffered bilateral lesions and the ...

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