Arthrogryposis With CNS Involvement in AFF3-Related KINSSHIP Syndrome: A Detailed Phenotypic Characterization From a Mexican Patient and Review of the Literature.
Thania Ordaz-Robles, Daniel Ramírez-García, Noémi Dahan-Oliel et al.
✦ AI-curated · Sources linked
Case in brief
A patient with distal contractures present at birth and neurodevelopmental delay underwent whole-genome sequencing, which identified a previously reported missense variant in AFF3. The findings supported a diagnosis of AFF3-related KINSSHIP syndrome, a condition associated with congenital contractures and central nervous system involvement. The report also reviewed published cases involving AFF3. The abstract does not describe additional patient-specific findings or a clinical resolution.
What made this case unusual
The case draws attention to the combination of congenital distal contractures and neurodevelopmental delay as a presentation of AFF3-related KINSSHIP syndrome.
Diagnostic / clinical pearl
In a patient with multiple congenital contractures and neurodevelopmental impairment, consider AFF3-related KINSSHIP syndrome; genomic testing can help establish the diagnosis.