Acrocallosal syndrome: Classical findings in a case report with a literature review

Author:

Chawla Siddhi1,Charan Aditya1

Affiliation:

1. Department of Radiology, Sardar Patel Medical College, Bikaner, Rajasthan, India,

Abstract

We present a case of a 1-day-old neonate with classical findings of acrocallosal syndrome. The child presented with difficulty in feeding. Clinically, the patient had craniofacial anomalies and digital malformations. Imaging with ultrasonography and magnetic resonance imaging revealed characteristic features of corpus callosum agenesis with dandy walker malformation. A classical case of acrocallosal syndrome with sporadic occurrence is discussed with a detailed review of all such previously reported cases in the literature till date and a discussion of possible differentials.

Publisher

Scientific Scholar

Reference19 articles.

1. Postaxial polydactyly, hallux duplication, absence of the corpus callosum, macrencephaly and severe mental retardation: A new syndrome?;Schinzel;Helv Paediatr Acta,1979

2. Acrocallosal syndrome in a child with de novo inverted tandem duplication of 12p11.2-p13.3;Pfeiffer;Ann Genet,1992

3. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes;Putoux;Nat Genet,2011

4. The acrocallosal syndrome in a neonate with further widening of phenotypic expression;Singhal;Iran J Child Neurol,2014

5. Orodental manifestations in cases with partial agenesis of corpus callosum-rare phenomena;Bhambal;J Oral Biol Craniofac Res,2015

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