Poland Syndrome with transverse upper limb deficiency: beyond the vascular disruption hypothesis.
Min Kai Chang, Jean Chiew, Darryl Ee Ming Chew
✦ AI-curated · Sources linked
Case in brief
A neonate presented with right-sided pectoral deficiency and an ipsilateral transverse upper limb deficiency at the carpal level. Unlike the classic Poland syndrome pattern of symbrachydactyly, the affected limb had no ectodermal elements. The authors considered this phenotype inconsistent with a simple, single-point vascular interruption and supportive of a dynamic embryonic capillary plexus model.
What made this case unusual
The combination of pectoral deficiency with carpal-level transverse limb deficiency and absence of ectodermal elements differs from the classic Poland syndrome presentation.
Diagnostic / clinical pearl
Poland syndrome can present with transverse upper limb deficiency rather than the classic symbrachydactyly; absence of ectodermal elements does not exclude the reported phenotype.
Why it matters
The phenotype challenges a single-point vascular interruption as the sole explanatory model and supports consideration of dynamic embryonic capillary plexus development.