SCARF syndrome

SCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.

Pectus carinatum

A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.


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PMID (PMCID)