Download acrocallosal syndroom artikelen
Artikel 1 | Syndrome acro-calleux sans retard mental: à propos d'un cas.
(Elsevier Masson)
[...] We report a case of acrocallosal syndrome in a 7-month-old female patient born to consanguineous parents, who presented with agenesis of the corpus callosum, polydactyly, and minor craniofacial dysmorphism. This case is similar to two other occurrences described in the literature, with no psychomotor development delay and hypotonia. [...]
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Artikel 2 | Acrocallosal syndrome.
(Indian Society of Pedodontics and Preventive Dentistry)
[...] Presented here is a case of a 8 year old boy with typical clinical manifestations of Acrocallosal syndrome. The characteristic features of this syndrome are craniofacial abnormalities, distinctive digital malformation, mental retardation. The clinical and major nosologic aspects of this condition are discussed. [...]
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Artikel 3 | Acrocallosal syndrome: report of five Turkish patients.
(Lippincott Williams & Wilkins)
[...] Acrocallosal syndrome is characterized by agenesis of the corpus callosum, craniofacial anomalies, psychomotor retardation, and polydactyly. The clinical spectrum of this syndrome is broader than previous reports suggest. Five Turkish patients including dizygotic twins are reported. [...]
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Artikel 4 | Spectrum of the Acrocallosal Syndrome.
(American Journal of Medical Genetics)
[...] Acrocallosal syndrome (ACS) is an autosomal recessive condition, characterized by agenesis of the corpus callosum, pre- and postaxial polydactyly, minor craniofacial anomalies, and, in most patients, severe psychomotor retardation, We here report on three patients with ACS demonstrating a spectrum from mild to severe involvement. [...]
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Artikel 5 | How wide is the clinical spectrum of the acrocallosal syndrome?
(Servizio di Genetica Medica, Padova, Italy)
[...] A boy presenting with an incomplete form of the acrocallosal syndrome is described. The syndrome shows clinical variability and it is stressed that none of the components is constant and facial dysmorphism is not always characteristic. [...]
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