Acrocallosal syndrome: New findings
- 1 March 1989
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 32 (3) , 306-310
- https://doi.org/10.1002/ajmg.1320320305
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 recto vaginal 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.Keywords
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