Year: 2024
Type: article
Study design: Case Report
Abstract: Acrocallosal syndrome (ACS)1,2 is characterised by post-axial polydactyly,duplication of the hallux,and abnormality of corpus callosum including agenesis or dysgenesis, occasional anencephaly, and/or Dandy–Walker malformation, characteristic craniofacial abnormalities,and moderate-to-severe mental retardation. One year old male child admitted in view of convulsions who has dysmorphicfacies, polydactyly, Hallux duplication, undescended testis. MRI brain showed carpus callosal agenesis and Whole exon sequencing – KIF 7 gene mutation.Acrocallosal syndrome is rare with only a limited number of cases being described in the literature. Early recognition of the condition is necessary to intervene surgically and to counsel the parents regarding the genetics of the disease and dedicated follow-up of the affected child in special OPDs.Molecular testing should be done in all suspected cases.
Authors: Megha Bellamkondi, Sachin Bandichhode, Sudarshan Chakre, Suraj More
Institution: Dr. V. M. Government Medical College
Language: English
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4404461825