266 Trichothiodystrophy, a multisystem disorder with early onset debilitating hip degeneration
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چکیده
منابع مشابه
Hyperreactio Luteinalis with early-onset HELLP syndrome: A case report
Introduction: Hyperreactio Luteinalis (HL) is a rare benign condition in pregnancy which is characterized by bilaterally multicystic ovarian enlargement containing theca lutein cysts caused by increased production of hCG. HL is mostly associated with hydatidiform mole and multiple pregnancies. Correspondence: Azin Alavi, ...
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A sister and brother developed a progressive syndrome comprising bulbar palsy, supranuclear ophthalmoplegia, facial impassivity, and cerebellar ataxia together with a mixed pyramidal and extrapyramidal deficit in the limbs, in the fourth decade of life. Their parents were unaffected and inheritance was probably autosomal recessive. The female patient, who presented initially with bulbar and ext...
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Very early-onset schizophrenia (defined as an onset of psychosis before 13 years of age) is a rare and severe form of the disorder which is clinically and neurobiologically continuous with the adult-onset disorder. It is rarely reported <12 years of age in Indian literature. Here, we present a 15-year-old boy who developed psychosis at 9 years of age and during illness developed tic disorder.
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Conversion disorder is defined as the presence of functional impairment in motor, sensory and neurovegetative systems that cannot be fully explained by a general medical condition. In western countries, conversion disorder is rare in children and adolescents. However, clinical studies from our country demonstrated a high frequency of conversion disorder diagnosis in child and adolescent psychia...
متن کاملA common skin disorder with potential multisystem implications
it can be managed well if recognised and treated correctly. With evidence increasing that children with psoriasis are at greater risk of cardiovascular disease, obesity and metabolic syndrome later in life, a young patient with this chronic skin disorder presents an important opportunity for preventive action to reduce future health risks. Psoriasis is a common chronic skin condition that affec...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2020
ISSN: 0022-202X
DOI: 10.1016/j.jid.2020.03.272