Cousin Syndrome Due to TBX15 Gene Variants: Three Novel Cases and Review of the Literature.
Wafaa Alharbi, Abdul A Peer-Zada, Abeer S Alaqidi et al.
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Case in brief
This report details three novel cases of Cousin syndrome from two unrelated families, characterized by short stature, pelvi-scapular dysplasia, and craniofacial dysmorphism due to homozygous variants in the TBX15 gene. The individuals exhibited typical features such as hypoplastic scapulae, hip dislocation, and strabismus. The findings reinforce the clinical recognition of Cousin syndrome.
Diagnostic / clinical pearl
Cousin syndrome should be considered in patients presenting with short stature and characteristic dysmorphic features, particularly when associated with TBX15 gene variants.
Why it matters
The variability in associated features, such as intellectual disability, highlights the need for further case descriptions to better understand the full spectrum of Cousin syndrome.