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Schimke syndrome corresponds to dysplasia of bone and immunity, associated with progressive renal disease secondary to nephrotic syndrome cortico-resistant, with possible other abnormalities such as hypothyroidism and blond marrow aplasia. It is a rare genetic disorder, with few reports in the literature. The most frequent renal involvement is nephrotic syndrome with focal segmental glomerulosc...

2 cases of laurence- moon-biedl syndrome are described in 2 rothers. they have 5 out of 6 cardinal symptoms of this syndrome i.e. : i) obesity ,2) genital dystrophia, 3) retinitis pigmentosa, 4)menal deficiency, 5) familial occurrence. besides, their only sister has ocular signs of beginning of retinitis igmentosa and one of their relatives had polydactylism and another ne cretinism. what is cu...

SummaryThese two case reports illustrate the importance of doing a thorough dysmorphology examination for all so called "Multiple congenital anomalies" children and attempting to fit them into a recognized syndrome. Well over 2000 dysmorphic syndromes are now recognized and diagnosis of these children can be extremely difficult.

Le syndrome de Sénior Loken est une ciliopathie très rare à transmission autosomique récessive caractérisée par l'association d'une néphropathie tubulo-interstitielle chronique, la néphronophtise, avec une dystrophie rétinienne. M âgé de 7 ans, issu d'un mariage consanguin du premier degré était hospitalisé pour prise en charge d'une insuffisance rénale chronique. Sa sœur est en insuffisance ré...

BACKGROUND AND PURPOSE Cornelia de Lange syndrome is a rare developmental malformation syndrome with a high prevalence of hearing impairment. The purposes of this study were to describe the characteristic temporal bone CT findings in patients with Cornelia de Lange syndrome and to correlate audiometric data with radiologic findings in these patients. MATERIALS AND METHODS Ten children (6 girl...