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Aicardi syndrome with holoprosencephaly and cleft lip and palate.

Authors
  • Sato, N1
  • Matsuishi, T
  • Utsunomiya, H
  • Yamashita, Y
  • Horikoshi, T
  • Okudera, T
  • Hashimoto, T
  • 1 Department of Pediatrics and Child Health, Kurume University School of Medicine, Fukuoka, Japan. , (Japan)
Type
Published Article
Journal
Pediatric Neurology
Publisher
Elsevier
Publication Date
Jan 01, 1987
Volume
3
Issue
2
Pages
114–116
Identifiers
PMID: 3508052
Source
Medline
Language
English
License
Unknown

Abstract

This 14-day-old Japanese girl demonstrated the classic features of Aicardi syndrome, including infantile spasms, agenesis of the corpus callosum, chorioretinopathy, microphthalmia, vertebral anomalies, electroencephalographic abnormalities, and severe mental retardation. Furthermore, she had a cleft lip and palate and a severe brain malformation due to semilobar-type holoprosencephaly. This patient is the second reported with Aicardi syndrome and associated cleft lip and posterior palate; she is the first patient with an additional severe brain malformation due to semilobar-type holoprosencephaly.

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