A patient with KPS Syndrome may have a number of skeletal and developmental findings.


Developmental findings:

(1) cognitive deficits and/or developmental delay

(2) delayed bone age

(3) short stature


Skeletal findings:

(1) abnormal ribs

(2) abnormal vertebrae

(3) short tubular bones of the hands

(4) brachy-clinodactyly of the fifth finger

(5) syndactyly of second and third toes

(6) abnormal spine curvature

(7) hip dysplasia and/or short femoral necks

(8) sternum abnormalities


Other findings:

(1) congenital heart defects

(2) abnormal EEG


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