Literature DB >> 2099765

Angelman's syndrome in infancy.

K A Yamada1, J J Volpe.   

Abstract

The authors report an 11-month-old patient with the clinical features of Angelman syndrome and a 15q11 x 2-12 chromosomal deletion, thus demonstrating that the clinical features may be present in infancy and so allow early diagnosis. The features included pronounced postnatal growth failure, delayed dentition and ossification of growth centers. Low amniotic fluid alpha-fetoprotein was noted at 16 weeks of gestation. Head MRI showed only generalized atrophy. Some affected patients have a genetic marker similar to the chromosomal deletion associated with Prader-Willi syndrome. The importance of awareness of the clinical symptoms of Angelman syndrome is discussed.

Entities:  

Mesh:

Year:  1990        PMID: 2099765     DOI: 10.1111/j.1469-8749.1990.tb08124.x

Source DB:  PubMed          Journal:  Dev Med Child Neurol        ISSN: 0012-1622            Impact factor:   5.449


  7 in total

1.  Angelman's syndrome: a neuropathological study.

Authors:  T Kyriakides; L A Hallam; A Hockey; P Silberstein; B A Kakulas
Journal:  Acta Neuropathol       Date:  1992       Impact factor: 17.088

Review 2.  Genomic imprinting and the social brain.

Authors:  Anthony R Isles; William Davies; Lawrence S Wilkinson
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2006-12-29       Impact factor: 6.237

3.  Elevated plasma gamma-aminobutyric acid (GABA) levels in individuals with either Prader-Willi syndrome or Angelman syndrome.

Authors:  M H Ebert; D E Schmidt; T Thompson; M G Butler
Journal:  J Neuropsychiatry Clin Neurosci       Date:  1997       Impact factor: 2.198

Review 4.  Clinical features in 27 patients with Angelman syndrome resulting from DNA deletion.

Authors:  A Smith; C Wiles; E Haan; J McGill; G Wallace; J Dixon; R Selby; A Colley; R Marks; R J Trent
Journal:  J Med Genet       Date:  1996-02       Impact factor: 6.318

5.  Regional cerebral blood flow in Angelman syndrome.

Authors:  K Gücüyener; N Gökçora; N Ilgin; N Buyan; A Sayli
Journal:  Eur J Nucl Med       Date:  1993-07

6.  Communication development in Angelman's syndrome.

Authors:  N Jolleff; M M Ryan
Journal:  Arch Dis Child       Date:  1993-07       Impact factor: 3.791

7.  Parental view of epilepsy in Angelman syndrome: a questionnaire study.

Authors:  M Ruggieri; M A McShane
Journal:  Arch Dis Child       Date:  1998-11       Impact factor: 3.791

  7 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.