PMID: 2099765Nov 1, 1990Paper

Angelman's syndrome in infancy

Developmental Medicine and Child Neurology
K A Yamada, 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.

Citations

Nov 1, 1995·Journal of Child Neurology·F VianiV Briscioli
Dec 1, 2005·Journal of Intellectual Disability Research : JIDR·K Horsler, C Oliver
Jun 1, 2007·Journal of Child Psychology and Psychiatry, and Allied Disciplines·Chris OliverEmily Griffiths
Oct 20, 2015·Clinical Anatomy : Official Journal of the American Association of Clinical Anatomists & the British Association of Clinical Anatomists·Rohit SachdevaSoo Y Kim
Jul 1, 1993·Archives of Disease in Childhood·N Jolleff, M M Ryan
Jan 1, 1992·Acta Neuropathologica·T KyriakidesB A Kakulas
Feb 1, 1996·Journal of Medical Genetics·A SmithR J Trent
Oct 11, 2007·Nature Reviews. Neuroscience·Lawrence S WilkinsonAnthony R Isles
Dec 31, 1997·American Journal of Medical Genetics·B N ChodirkerA E Chudley
Apr 1, 1995·Journal of Intellectual Disability Research : JIDR·J A SummersL Sandler
Mar 27, 1995·American Journal of Medical Genetics·I M BuntinxJ P Fryns
Jul 1, 1993·European Journal of Nuclear Medicine·K GücüyenerA Sayli
May 20, 2000·The Journal of Perinatal & Neonatal Nursing·C A Prows, R J Hopkin
Nov 23, 2006·Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences·Anthony R IslesLawrence S Wilkinson

❮ Previous
Next ❯

Related Concepts

Related Feeds

Angelman Syndrome

Angelman syndrome is a neurogenetic imprinting disorder caused by loss of the maternally inherited UBE3A gene and is characterized by generalized epilepsy, limited expressive speech, sleep dysfunction, and movement disorders. Here is the latest research.

Related Papers

International Journal of Gynaecology and Obstetrics : the Official Organ of the International Federation of Gynaecology and Obstetrics
Chia-Wei ChangPao-Lin Kuo
Anales españoles de pediatría
C Campos TristánJ Vázquez-Cano
Genetics in Medicine : Official Journal of the American College of Medical Genetics
Kristin G MonaghanDaniel L Van Dyke
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie
J M Dupont, L Cuisset
© 2021 Meta ULC. All rights reserved