C syndrome in an Egyptian infant with dilated brain ventricles and heterotopia
Egyptian Journal of Medical Human Genetics [The]. 2008; 9 (2): 257-262
in English
| IMEMR
| ID: emr-135307
ABSTRACT
C syndrome is an autosomal recessive disorder characterized by trigonocephaly, partial or complete obliteration of the metopic suture which is characteristic, and short limbs. In this paper we describe an Egyptian boy affected with this syndrome, with no exophthalmos and with dilated brain ventricles and heterotopia
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Index:
IMEMR (Eastern Mediterranean)
Main subject:
Phenotype
/
Brain
/
Echocardiography
/
Tomography, X-Ray Computed
/
Chromosome Aberrations
Type of study:
Case report
Limits:
Humans
/
Male
Language:
English
Journal:
Egypt. J. Med. Hum. Genet.
Year:
2008
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