C syndrome in an Egyptian infant with dilated brain ventricles and heterotopia
Egyptian Journal of Medical Human Genetics [The]. 2008; 9 (2): 257-262
en Inglés
| 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
Buscar en Google
Índice:
IMEMR (Mediterraneo Oriental)
Asunto principal:
Fenotipo
/
Encéfalo
/
Ecocardiografía
/
Tomografía Computarizada por Rayos X
/
Aberraciones Cromosómicas
Tipo de estudio:
Informe de Casos
Límite:
Humanos
/
Masculino
Idioma:
Inglés
Revista:
Egypt. J. Med. Hum. Genet.
Año:
2008
Similares
MEDLINE
...
LILACS
LIS