abstract: griscelli syndrome (gs) is a rare disease first described in 1978. it is inherited in autosomal recessive pattern. this disease is characterized by partial albinism, pigmentation dilution, cellular immunodeficiency, neurological involvement & uncontrolled phases of macrophage & lymphocyte activation. we report a 5 months old iranian girl presenting with silver-gray hair,eyelashes and ...

introduction: nager syndrome is a malformation resulting from problems in the development of the first and second branchial arches and limb buds. the cause of the abnormal development of the pharyngeal arches in nager syndrome is unknown. it is also unclear why affected individuals have bone abnormalities in their arms and legs. nager syndrome is thought to have an autosomal recessive inheritan...

purpose: to report a case of proteus syndrome with new ophthalmic findings not reported elsewhere. patient and findings: the patient is an 18-year-old girl with red lesions on hand and foot from birth and disproportionate growth of right upper and lower limbs from the first year of life. on examination, the patient has enlargement of the right upper and lower limb, macrodactyly, vascular malfor...

turner syndrome is one of the best known chromosome anomalies in human being, by an approximate incidence of 1/2500 female at birth. the cause is a chromosomal aberration, mainly with the karyotype 45, x. ninety six patients aged 6 to 26 years with short stature were studied for chromosomal anomalies. out of these 82 were phenotypically female and 14 phenotypically male. twenty seven showed abn...

the radiologic features of intralobar pulmonary sequestration (ilps) have been describe and include the identification of a feeding systemic artery with venous drainage through pulmonary veins. primary sequestration associated with typical hamartoma signs is really rare and has been described only once. we describe a patient with ilps whose radiographic findings were unusual for two reasons. fi...

every material that gastrointestinal system cannot digest will make a bezoar. trichobezoar is the result of hair inges-tion whether self-hair or from others and is not a common disorder in humans. it is a hairball, which mostly has been seen in females at teenage, or adolescence. it usually locates in stomach but in rare conditions, it will pass through the intestine, and make the rapunzel synd...

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introduction robinow syndrome (rs) is an infrequent genetic condition that is characterized by a dysmorphic face, dental anomaly, short stature, mesomelic limb shortening, hand and foot anomalies, and hypoplastic genitalia. the robinow syndrome has been reported from the arab countries and other asian countries, but has not been reported in iranian population so far. case presentation a new bor...

in this research, we investigated basic symptoms of syndrome in illnesses of sick buildings. we designed a questionnaire and asked from male of dormitory residence. questions of the questionnaire were more about known symptoms of buildings (shortness of breath, inflammation, swelling and burning eyes, runny nose, malaise and fatigue, drowsiness, headache) exacerbations time intervals in the res...

introduction induction of general anesthesia in patients with superior vena cava (svc) syndrome may cause airway obstruction and cardiovascular collapse. case presentation herein, we introduced a patient with the diagnosis of dissecting aneurysm of the ascending aorta who was candidate for emergency surgery. he also had symptoms of svc syndrome. to maintain airway patency during anesthetic mana...