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Deafness-epiphyseal dysplasia-short stature syndrome
This syndrome is characterised by sensorineural deafness, short stature, femoral epiphyseal dysplasia, umbilical and inguinal hernias and developmental delay (growth retardation and mild intellectual deficit).
Frontal bossing
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
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PMID (PMCID)