Acrocallosal syndrome [ACS]
Egyptian Journal of Medical Human Genetics [The]. 2007; 8 (1): 111-114
in English
| IMEMR
| ID: emr-82401
ABSTRACT
Acrocallosal syndrome [ACS] is a rare autosomal recessive genetic disorder with hypoplasia / agenesis of corpus callosum, moderate to severe mental retardation, characteristic craniofacial abnormalities, distinctive digital malformations and growth retardation. In this paper we present a three month old girl with typical features of this syndrome.
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Magnetic Resonance Imaging
/
Echocardiography
/
Tomography, X-Ray Computed
/
Craniofacial Abnormalities
/
Corpus Callosum
/
Cytogenetic Analysis
/
Intellectual Disability
Type of study:
Case report
Limits:
Female
/
Humans
Language:
English
Journal:
Egypt. J. Med. Hum. Genet.
Year:
2007
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