Femoral agenesis/hypoplasia

Congenital short femur is a rare malformation of variable severity ranging from mild hypoplasia to complete absence of the femur.

Macrocephaly

Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.


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PMID (PMCID)