Year: 2024
Type: article
Study design: Case Report
Abstract: Schuurs–Hoeijmakers syndrome is a very rare disease entity presenting as a neuro-developmental disorder with dysmorphic facies and a host of non-specific phenotypes. The diagnosis of this autosomal dominant disorder is made by genetic testing based on high clinical suspicion. Little is known about the radiological findings in such children. Here, we show a case of a 7-year-old boy diagnosed by whole exome sequencing and portray the various radiological and clinical findings that he presented with.
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: hybrid
OpenAlex ID: W4404426360