Two Atypical Cases of Adams-Oliver Syndrome With DOCK6 Genetic Variants.
Yan Bai, Jiaxin Xu, Jing Xin et al.
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Case in brief
Two unrelated children with compound heterozygous DOCK6 variants had global developmental delay and visual impairment. Neither had the scalp aplasia cutis congenita or terminal transverse limb defects that characterize Adams-Oliver syndrome. The authors describe these findings as atypical presentations of DOCK6-related AOS, in which the expected cutaneous and limb features were absent. The report emphasizes that genetic testing identified the association despite the lack of these hallmark signs; no treatment or clinical resolution is described.
What made this case unusual
Both children lacked the defining scalp and limb abnormalities of AOS, despite carrying compound heterozygous DOCK6 variants and having developmental delay and visual impairment.
Diagnostic / clinical pearl
Consider DOCK6-related AOS in children with developmental delay and visual impairment even when scalp aplasia cutis and terminal limb defects are absent; genetic testing may help identify atypical presentations.
Why it matters
Screening only patients with the typical AOS phenotype may miss individuals with DOCK6 variants.