Acrocallosal syndrome: new findings.
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.
Moeschler
J B
JB
Clinical Genetics and Child Development Center, Dartmouth Medical School, Hanover, New Hampshire 03756.
Pober
B R
BR
Holmes
L B
LB
Graham
J M
JM
D000015:Abnormalities, Multiple / Q000473:pathology*; D061085:Agenesis of Corpus Callosum; D003241:Consanguinity; D003616:Dandy-Walker Syndrome / Q000175:diagnosis; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D013577:Syndrome