Rhabdomyosarcomas have been described in association with thyroid disease, dermatomyositis, Duchenne muscular dystrophy, and dystrophy models but not patients ryanodine receptor-1 gene (RYR1) pathogenic variants. We here an 18-year-old male who reported a cervical nodule. Magnetic resonance images revealed mass the ethmoidal sinus corresponding to rhabdomyosarcoma. As his father died from malig...

purpose: to report a case of butterfly-shaped macular dystrophy. patient and findings: a 34-year-old woman presented with metamorphopsia in both eyes from 2 years ago. visual acuity was 9/10 in right eye and 10/10 in left eye. there was no pathologic finding on slit lamp biomicroscopy and funduscopy other than mild macular retinal pigment epithelium mottling. visual fields and electroretinogram...

In this paper, we aimed to report a case of limb-girdle muscular dystrophy with diabetes mellitus who admitted our outpatient clinic paresthesia in all four limbs and swelling pain both ankles waist. Nerve conduction study affirmed peripheral sensory polyneuropathy osteoporosis was detected by bone mineral density analysis. A detailed evaluation revealed bilateral sacroiliitis, HLA-B 27 positiv...

Abstract Background Collagen VI related myopathies are congenital diseases of variable phenotype. The severe phenotype is referred to as Ullrich muscular dystrophy. In this study, we describe analoguos clinical signs and histopathological alterations in Landseer dogs. Materials We collected data from two affected dogs investigated the neuromuscular changes five different litters with immunohist...

purpose : the aim of this study was to determine indications of keratoplasty during 7 years (1999–2006) in emam-rreza and vali-asr teaching hospitals of birjand university of medical sciences. methods : medical records of all patients who underwent penetrating keratoplasty (pk) in teaching hospitals of birjand university of medical sciences from 1999 to 2006 were investigated retrospectively. t...

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how to cite this article: bozorgmehr b, kariminejad a, nafissi sh, jebelli b, andoni u, gartioux c, ledeuil c, allamand y, richard p, kariminejad mh. ullrich congenital muscular dystrophy (ucmd):clinical and genetic correlations. iran j child neurol. 2013 summer; 7(3): 15-22.   obj ective: ullrich congenital muscular dystrophy (ucmd) corresponds to the severe end of the clinical spectrum of neu...

purpose: to report the histopathological diagnoses of recipient corneal buttons in patients undergoing penetrating keratoplasty. methods: in this observational case series, all recipient corneal specimens sent to the ophthalmic pathology laboratory of the eye bank of iran between 2004 and 2007 underwent histopathologic examination. results: overall, 315 corneal specimens were evaluated. histopa...

purpose: to report the confocal scan features in a case with clinical diagnosis of meesmann corneal dystrophy (mcd). case report: a 17-year-old female with recurrent episodes of corneal erosion and a clinical diagnosis of mcd underwent in vivo confocal scanning of both corneas. the confocal scan features included hyporeflective round-shaped areas measuring 6.8 to 41.4 mm within the superficial ...

Neuroaxonal Dystrophies (NAD) are neurodegenerative diseases characterized by axonal “spheroids” occurring in different age groups. The identification of mutations delineated new molecular entities these disorders. We report neuropathological data a form NAD, precocious prenatal onset, from classical and conatal Infantile Dystrophy (INAD). studied 5 fetuses examined after pregnancy termination ...