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Table 2 Diagnostic Criteria for MCAP: core feature (1) plus either two or three core features

From: Clinical pitfalls in the diagnosis of segmental overgrowth syndromes: a child with the c.2740G > A mutation in PIK3CA gene

Core features

Supportive features

Secondary features

(1) Early overgrowth (brain > somatic tissue) progressive megalencephaly

Selective brain overgrowth (ventriculomegaly, cerebellar tonsillar ectopia, abnormally thick cospus callosum); congenital somatic overgrowth, somatic or cranial asymmetry


Developmental delay


(2) Developmental vascular disorders capillary malformations (midline face and body)

Infantile hemangiomas, venous aneurysms, aberrant vasculature


(3) Distal limb anomalies (syndactily)

Polydactyly, Sandal-gap toes


(4) Cortical brain malformations (polymicrogyria)


(5) Connective tissue dysplasia (skin hyperelasticity, joint ipermobility, thick doughy subcutaneous tissue)