COCKAYNE SYNDROME (CS) MASQUERADING AS SECKEL SYNDROME (SS)
نویسندگان
چکیده
منابع مشابه
Seckel syndrome: an overdiagnosed syndrome.
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 ...
متن کاملLetter: Seckel syndrome.
Sir, Although the literature on the 'Seckel syndrome' is very sparse, I was not surprised to see that Sauk et al (1973) missed my report (Szalay, 1964) of a patient with the Seckel syndrome. In 1963 and 1964 (Szalay, 1963; 1964), I used the feature of craniofacial disproportion to separate the Seckel and Russell dwarfs from other forms of intrauterine growth retardation (IUGR); I still feel (Sz...
متن کاملSeckel syndrome with polyarteritis nodosa.
Seckel syndrome is a rare genetic disorder with a typical "bird-headed" appearance. It could affect many organ systems but renal involvement is uncommon. Polyarteritis nodosa is systemic vasculitic disorder which also involves kidneys. We report a case of Seckel syndrome in a 9 year-old boy with renal involvement due to polyarteritis nodosa. According to the literature, this is the first report...
متن کاملAntenatal diagnosis of seckel syndrome.
Evaluation of the fetus in a 29-year-old primigravida showed severe intrauterine growth restriction with complex brain malformation with fetal dysmorphology. The family and past obstetric history is unremarkable, with nonconsanguineous marriage. Her previous scans included one at 12 weeks for nuchal translucency, and another an anomaly scan at 19 weeks, which both were unremarkable. In late sec...
متن کاملcockayne syndrome
how to cite this article: javadzadeh m. cockayne syndrome. iran j child neurol. autumn 2014;8;4(suppl.1):18-19. pls see pdf.
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 1987
ISSN: 0031-3998,1530-0447
DOI: 10.1203/00006450-198704010-00376