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Pagina 1 a partire dal 29 risultati
Partial aniridia, cerebellar ataxia, and mental deficiency (Gillespie syndrome) in two brothers.
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We report on two brothers (in a sibship of three) with partial aniridia, cerebellar ataxia, and moderate mental retardation, with normal G-banded chromosomes. Both present cerebellum hypoplasia; the younger also has congenital pulmonic stenosis. A review of the literature is presented. Cause is
Absence of PAX6 gene mutations in Gillespie syndrome (partial aniridia, cerebellar ataxia, and mental retardation).
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The PAX6 gene is expressed at high levels in the developing eye and cerebellum and is mutated in patients with autosomal dominant aniridia. We have tested the role of PAX6 mutations in three families with Gillespie syndrome, a rare autosomal recessive condition consisting of partial aniridia,
Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome.
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Here we describe a 5-year-old girl with Gillespie syndrome of cerebellar ataxia, partial aniridia, and mental retardation. The Gillespie syndrome probably is an autosomal recessive trait.
Gillespie syndrome, partial aniridia, cerebellar ataxia and mental retardation in mother and daughter.
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Two new cases of Gillespie syndrome in a mother and daughter are presented. This syndrome is characterised by partial aniridia, cerebellar ataxia and mental retardation.
[Gillespie syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia)].
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Two sisters presenting with a Gillespie 's syndrome are reported. This autosomal recessive Syndrome is characterized by a circumpupillary aplasia, non progressive cerebellar ataxia and oligophrenia.
Gillespie's syndrome (incomplete aniridia, cerebellar ataxia and oligophrenia).
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Two sisters presenting with a Gillespie's syndrome are reported. This autosomal recessive syndrome is characterized by a circumpupillary aplasia of the iris, non-progressive cerebellar ataxia and oligophrenia.
A de novo nonsense mutation of PAX6 gene in a patient with aniridia, ataxia, and mental retardation.
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The Triad of Non-progressive Cerebellar Ataxia, Partial Aniridia and Psychomotor Delay - Gillespie Syndrome.
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The syndrome of congenital cerebellar ataxia, aniridia and mental retardation.
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ANIRIDIA, CEREBELLAR ATAXIA, AND OLIGOPHRENIA IN SIBLINGS.
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Ataxia with aniridia of Gillespie: a case report.
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[Gillespie syndrome: an uncommon presentation of congenital aniridia].
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We report here the case of a patient suffering from Gillespie syndrome (GS) (partial aniridia, mental retardation, and cerebellar ataxia). The typical presentation is based on fixed dilated pupils in a hypotonic child. Iris abnormalities distinguish GS from other forms of aniridia. At the time of
Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome.
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We report molecular genetic analysis of 42 affected individuals referred with a diagnosis of aniridia who previously screened as negative for intragenic PAX6 mutations. Of these 42, the diagnoses were 31 individuals with aniridia and 11 individuals referred with a diagnosis of Gillespie syndrome
Aniridia
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Aniridia is defined as a partial or complete absence of the iris. Aniridia can be either congenital or acquired. Congenital aniridia is a rare disease that affects both eyes. It is autosomal dominant in the majority. Most of the other cases of congenital aniridia are sporadic. Sporadic aniridia may
[Congenital aniridia in children].
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Congenital aniridia in children. Congenital aniridia is a genetic rare disease that affects the entire eyeball (pan-ocular disease). The disease is characterized by partial or complete absence of iris. Clinical signs in children are essentially photophobia and nystagmus. The prevalence was reported
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