Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects.

Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. Research Abstract Details 

Research Abstract Table of Contents

Jump to the:

Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. Abstract Text:

U Thyen,F Aksu,O Bartsch,E Herb,U Thyen,F Aksu,O Bartsch,E Herb,

The acrocallosal syndrome (ACS) is a rare malformation syndrome characterized by a distinct pattern of craniofacial, brain and limb anomalies. It was first described by Schinzel in 1979 and followed by 25 other cases reported in the literature. Neurodevelopmental aspects include hypotonia of prenatal onset, seizures and moderate to severe mental retardation. The condition is probably of autosomal recessive inheritance but is closely resembles the Greig cephalopolysyndactyly syndrome (GCPS), an autosomal dominantly inherited disorder mapped to the short arm of chromosome seven. We reviewed the literature for aspects of associated cystic malformations in addition to agenesis of the corpus callosum and report on another patient with ACS. Prognosis is dependent on the degree of hypotonia and early onset of epilepsy rather than the degree of craniofacial and limb malformations.

Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. Publishing Authors By Initials

U Thyen,F Aksu,O Bartsch,E Herb,U Thyen,F Aksu,O Bartsch,E Herb,

For similar pathological conditions, signs and symptoms: pathologic processes: disease: syndrome research abstracts see: pathological conditions, signs and symptoms: pathologic processes: disease: syndrome research

PUBMED ID PMID:

MEDLINE DATE:

Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. Journal Published:

PUBLICATION TYPE: Journal Article

Journal: Neuropediatrics

VOLUME: 23

Page Numbers: 292-6

Journal Abbreviation: Neuropediatrics

ISSN: 0174-304X

DAY: 16

MONTH: Dec

YEAR: 1992

Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 8101187

Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. Keywords Mesh Terms:

KEYWORDS: Syndrome

MESH TERMS: diagnosis

Chemical & Substance for Abstract: Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects. Information

Substance Name:

Registry Number:

Grant and Affiliation Information for Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects.

AFFILIATION: Klinik für Pädiatrie, Medizinische Universität zu Lübeck, Germany.

Country: GERMANY

AGENCY:

GRANT:

ACRONYM:

MEDLINETA: Neuropediatrics

REFSOURCE:

DATABASENAME:

ACCESSION NUMBER:

Number Hits: 0

Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects Related Publications

• Acrocallosal syndrome: association with cystic malformation of the brain and neurodevelopmental aspects.
• Epoxidation of methyl linoleate. II. The two isomers of methyl 9, 10: 12, 13-diepoxystearate.
• Gas-liquid chromatography of lipids, carbohydrates and amino acids.
• Review: mercury in waste incineration.
• [Chemistry of Ilex aquifolium L. I. Isolation of ursolic acid and rutin from leaves.]