Seckel-like syndrome or Seckel variants?
نویسندگان
چکیده
منابع مشابه
Letter: 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...
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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 کاملSeckel 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 ...
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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...
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Seckel syndrome is a heterogeneous, autosomal recessive disorder marked by prenatal proportionate short stature, severe microcephaly, intellectual disability, and characteristic facial features. Here, we describe the novel homozygous splice-site mutations c.383+1G>C and c.4005-9A>G in CDK5RAP2 in two consanguineous families with Seckel syndrome. CDK5RAP2 (CEP215) encodes a centrosomal protein w...
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ژورنال
عنوان ژورنال: Annals of Saudi Medicine
سال: 2004
ISSN: 0256-4947,0975-4466
DOI: 10.5144/0256-4947.2004.469