kindler's syndrome is a rare entity of unknown cause characterized by acral blisters early in life followed by progressive diffuse poikiloderma and cutaneous atrophy. the inheritance pattern of this syndrome is not clear. we report four iranian siblings (three boys and one girl) with this syndrome, who were the result of a consanguineous marriage. in addition to the usual manifestations of the ...


 CADTH reimbursement reviews are comprehensive assessments of the clinical effectiveness and cost-effectiveness, as well patient clinician perspectives, a drug or class.
 The inform non-binding recommendations that help guide decisions Canada's federal, provincial, territorial governments, with exception Quebec.
 This review assesses risdiplam (Evrysdi), powder for oral solution...

incontinentia pigmenti (ip) is a rare x-linked dominant disorder with skin, eye, central nervous system (cns) and tooth abnormalities. according to the reported cases, it is estimated that there have been nearly 900-1200 affected individuals. in this article, the literature is reviewed and a case of ip with characteristic skin lesions and optic atrophy is presented.

objective we describe three patients with very severe spinal muscular atrophy (sma) presented with reduced fetal movement in utero, profound hypotonia, severe weakness and respiratory insufficiency at birth. in all infants, electrodiagnostic studies were compatible with a neurogenic pattern. in genetic studies, all cases had homozygous deletions of exons 7 and 8 of survival motor neuron (smn) a...