[Acrocallosal syndrome without psychomotor abnormality: a case report]

Area of Science:

• Medical Genetics
• Developmental Biology
• Pediatric Neurology

Background:

• Acrocallosal syndrome is a rare genetic disorder.
• It is characterized by agenesis of the corpus callosum, postaxial polydactyly, and craniofacial abnormalities.

Observation:

• A 7-month-old female patient from a consanguineous family presented with key features of acrocallosal syndrome.
• The patient exhibited agenesis of the corpus callosum, polydactyly, and subtle craniofacial dysmorphism.

Findings:

• This case aligns with previously reported instances of acrocallosal syndrome.
• Notably, the patient showed no psychomotor development delay or hypotonia, distinguishing it from some other cases.

Implications:

• This case expands the phenotypic spectrum of acrocallosal syndrome.
• Further research into genotype-phenotype correlations is warranted for better understanding and management.