Hyaline fibromatosis syndrome is the current name for clinical manifestations of diseases previously known as "infantile systemic hyalinosis" and "juvenile hyaline fibromatosis". The authors report representative clinical cases of each one of the above subtypes with emphasis on cutaneous manifestations and difficulties for early diagnosis in this syndrome, essentially of multidisciplinary appro...

Background: Turner syndrome (TS) is a sporadic disorder caused by the absence of all or some parts one X-chromosome with major developmental consequences such as short stature and ovarian failure etc. The minor manifestations of TS are cubitus valgus, micrognatism, high-arched palate, short and/or webbed neck, hypothyroidism, etc. Different karyotype abnormalities may lead to different clinical...

histiocytosis of langerhans cells (class 1 histiocytosis) consists of a range of clinical manifestations, including bone eosinophilic granuloma, hand-schüller-christian syndrome, and letterer-siwe disease. these syndromes represent a spectrum of severity and prognosis of an underlying disorder which is usually sporadic. this report describes three cases in one family, who developed the disease ...

Ellis-Van Creveld syndrome or chondroectodermal dysplasia is a rare autosomal recessive disorder presenting several skeletal manifestations and congenital heart malformations. Ellis-Van Creveld syndrome comprises of a tetrad of clinical manifestations of chondrodysplasia, polydactyly, ectodermal dysplasia, and cardiac defects. Here, we are presenting a very rare case of Ellis-Van Creveld syndro...

how to cite this article: shiari r, hassase yegane m, farivar s, javadi parvaneh v, mirjavadi sa. neuropsychiatric symptoms as the first manifestation of juvenile systemic lupus erythematosus: a complicated case with klinefelter’s syndrome. iran j child neurol. 2014 winter; 8(1):62-65. abstract systemic lupus erythematosus (sle) is an autoimmune, multisystem disorder with various manifestations...

conclusions in addition to an appropriate clinical history, ct findings indicating decreased aortomesenteric angle and a shortened aortomesenteric distance can suggest the diagnosis for both the superior mesenteric artery syndrome and accompanying nutcracker syndrome. case presentation in this report, a patient is described presenting with epigastric pain and weight loss due to superior mesente...

Myofascial pain syndrome is one of the most common manifestations musculoskeletal pain, and it manifested not only by but also localized highly sensitive areas sensitivity changes. Clinical isolated trigger zones have been described in literature. However, practice, has to deal with myofascial caused multiple muscles or several neighboring regions. In this case, patterns overlap change clinical...

Background Polycystic ovarian syndrome (PCOS) was first introduced by Leventhal and Stein in 1935. It has a wide range of manifestations such as hyperandrogenism, irregular menstruation and central body obesity. The lack of definite diagnostic criteria has made the diagnosis a difficult task. Moreover, the disturbing aspects of the syndrome range from hirsutism in an adolescent girl to infertil...

an 18-year-old girl fulfilled the diagnostic criteria for the proteus syndrome (ps). here we report our findings in comprehensive general physical and ocular examination and review the literature focused on clinical manifestations and differential diagnoses. the patient had ‘mild’ involvement of the ophthalmic apparatus: absent foveal reflex, cataract, and abnormal retinal vessels, which in the...