Acrocallosal syndrome: new findings.
Am J Med Genet
; 32(3): 306-10, 1989 Mar.
Article
in En
| MEDLINE
| ID: mdl-2729349
ABSTRACT
We describe a 21-month-old girl with typical manifestations of the acrocallosal syndrome of craniofacial anomalies, agenesis of the corpus callosum, hallucal duplication, severe hypotonia, and psychomotor retardation. Our patient also had the Dandy-Walker malformation, imperforate anus with rectovaginal fistula, hypothalamic dysfunction with hypothyroidism and diabetes insipidus, thick, dysplastic pulmonic valve leaflets, central and obstructive apnea, and pulmonary hypertension. These findings add to the delineation of this syndrome.
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Database:
MEDLINE
Main subject:
Abnormalities, Multiple
/
Consanguinity
/
Agenesis of Corpus Callosum
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Infant
Language:
En
Year:
1989
Type:
Article