Bloom syndrome is a rare autosomal recessive genetic disorder, which is characterized by telangiectasia and erythema in the butterfly area of the face, dwarfism and photosensitivity. The case presented herein is a 22-year-old man who referred with facial erythema and telangiectasia (Resembling lupus erythematosus). The skin lesions were exacerbating during summer. Other clinical findings were p...

Five children in whom a diagnosis of Seckel syndrome had previously been made were re-examined in the genetic unit. One child had classical Seckel syndrome, a sib pair had the features of the syndrome with less severe short stature, and in two children the diagnosis was not confirmed. Seckel syndrome is only one of a group of low birth weight microcephalic dwarfism and careful attention should ...

conclusions the individuals should have multidisciplinary approach for the variety of disorders to maintain the appropriate treatment for a better appearance of the patients. case presentation we describe a patient with progressive hemifacial atrophy at right facial side who developed granulomatous uveitis and periferic retinal vasculitis in his left eye. we started topical and systemic steroid...

geophagia characterized by, severe, anaemia, dwarfism, hypogonadism • and hepatosplenomegaly is sometimes seen in young patients (and children) in iran. 2) haematological aspects of the syndrome are those of, severe, iron defi-crency anaemia3) gastric biopsies and histological findings revealed superfi cial or atrophic gastritis showing some resemblance to those seen in pernicious anaemia. 4) h...

1314 deformity with mesomelic dwarfism of both upper and lower limbs. It is. the commonest variety of mesomelic dwarfism(3). Madelung deformity may also be seen associated with diverse disorders such as mucopolysaccharidosis, Turner's syndrome, achondroplasia, dyschondroplasia (Ollier's disease), multiple exostosis and multiple epiphyseal dysplasia. Madelung's original description of the lesion...

the clinical and phenotypic features of two siblings (a 12 years old girl and her 7 year old brother) with cockayne syndrome are described. the main problems were mild to moderate mental retardation, dwarfism, clumsy gait, photosensitive skin lesions and progeroid (senile like) appearance. brain ct - scans revealed symmetrical, well defined areas of calcification mainly located at lenticular nu...

cockayne syndrome is a very rare genetic disorder with a recessive autosomal mode of inheritance characterized by dwarfism, microcephaly, mental retardation, deafness, photosensive dermatitis and a peculiar form of retinal pigmentation. we report an iranian family with one affected child who suffers from cockayne syndrome. cardinal features are failure to thrive, short stature, premature aging,...