RAPADILINO syndrome

A rare syndrome for which the acronym indicates the principal signs: RA for radial ray defect, PA for both patellae hypoplasia or aplasia and cleft or highly arched palate, DI for diarrhea and dislocated joints, LI for little size and limb malformations, NO for long, slender nose and normal intelligence.

Patellar aplasia

Absence of the patella.


Total: 1

                      


(per page)
PMID (PMCID)
2801769
MIXED_SAMPLE Child
RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations.
Kaariainen H, Ryoppy S, Norio R.
Am J Med Genet. 1989;33(3):346-51.
RAPADILINO syndrome with radial and patellar aplasia/hypoplasia as main manifestations.