نتایج جستجو برای: beak atrophy and dwarfism syndrome

تعداد نتایج: 16949926  

Journal: :The Bulletin of the American Academy of Psychiatry and the Law 1976
J Money J Werlwas

Introduction and Purpose Though the term folie Ii deux (Lasegue and Falret, 1877; Gralnick, 1942) is not common in current psychiatric usage, the phenomenon is recognized from time to time. In its strictest sense it means that two people manifest identically the same symptom, often an idee fixe, or a shared delusion. There is no literature on folie Ii deux in connection with the syndrome of rev...

Journal: :Nepal journal of neuroscience 2021

Dyke-Davidoff-Masson Syndrome (DDMS) is a rare neurological condition characterised clinically by recurrent seizures, facial asymmetry, hemiplegia and mental retardation likely due to foetal or early childhood cerebral insult. We describe the MRI findings of DDMS in 10-year-old male child. brain revealed right atrophy, ipsilateral thickening calvarium, lateral ventricular dilatation, hyper-pneu...

Journal: :Endocrinologia japonica 1983
M Ishihara

A case of a 14-year-old boy with optic hypoplasia and pituitary dwarfism was presented. Eye Examination showed typical hypoplasia of the left optic nerve and mild hypoplasia of the right optic nerve. Except for dwarfism and nystagmus, the appearance of the patient was not unusual. Computed tomography revealed an enlargement of the suprachiasmatic cistern, and the presence of the septum pellucid...

2013
Wa-Keung CHIU

In 1938, Jarcho and Levin1 first described a syndrome of congenital abnormalities affecting the spine and the thorax. The syndrome described a spectrum of radiological and skeletal anomalies including abnormal vertebral segmentation or formation defects, rib deformities and short trunk dwarfism. In 1978, Solomon et al2 subdivided patients with the above features into 2 distinct phenotypes: spon...

Journal: : 2022

Multiple system atrophy (MSA) is a neurodegenerative disease belonging to group of synucleinopathies and characterized by significant autonomic failure, parkinsonian syndrome, cerebellar signs. Diagnostic criteria used currently were updated in 2022. While the clinical method neuroimaging are typically diagnostic MSA, new modalities emerging. Novel candidate biomarkers being intensively thoroug...

Journal: :Archives of disease in childhood 1958
A T SANDISON

Although the condition of pituitary dwarfism has been recognized for some considerable time, there is still a relative lack of published autopsy findings and the following case is reported briefly for this reason. Lack of hypophysial growth hormone (almost certainly elaborated in the alpha cells of the pars anterior) during infancy or childhood results in varying degrees of under-development wh...

Journal: :Science 2004
Ping Wu Ting-Xin Jiang Sanong Suksaweang Randall Bruce Widelitz Cheng-Ming Chuong

Beak shape is a classic example of evolutionary diversification. Beak development in chicken and duck was used to examine morphological variations among avian species. There is only one proliferative zone in the frontonasal mass of chickens, but two in ducks. These growth zones are associated with bone morphogenetic protein 4 (BMP4) activity. By "tinkering" with BMP4 in beak prominences, the sh...

Journal: :Archives of disease in childhood 1993
Z Laron

Definition and epidemiology Laron syndrome is a hereditary disease where there is a primary resistance to growth hormone because of a polymorphic molecular defect in the growth hormone receptor. It is clinically and in many biochemical aspects undistinguishable from isolated growth hormone deficiency (IGHD), and is characterised by high circulating growth hormone concentrations and low serum IG...

Journal: :The Medical journal of Malaysia 1980
M K Afzal E e Choo Keng

OUR interest in neonatal dwarfism was aroused by the presentation of a deformed neon ate with short upper limbs and flapper-like lower limbs. We were unable to diagnose that baby. That was three years ago, since then we have seen one case of short rib polydactyly syndrome, one case of chondrodysplasia puncta or Conradi's disease and one of neonatal osteopetrosis. Our most recent addition is a c...

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