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1.

Coxopodopatellar syndrome

Ischiocoxopodopatellar syndrome (ICPPS) is a rare autosomal dominant disorder characterized by a/hypoplasia of the patellas and various anomalies of the pelvis and feet. Pelvic anomalies include bilateral absent or delayed ossification of the ischiopubic junction and infraacetabular axe cut notches. Other major signs are a wide gap between the first and second toes, short fourth and fifth rays of the feet, and pes planus (summary by Bongers et al., 2001). Pediatric-onset pulmonary arterial hypertension may be seen in association with ICPPS (Kerstjens-Frederikse et al., 2013 and Levy et al., 2016). [from OMIM]

MedGen UID:
333474
Concept ID:
C1840061
Disease or Syndrome
2.

Hypoplasia of the lesser trochanter

Underdevelopment of the lesser trochanter. [from HPO]

MedGen UID:
327018
Concept ID:
C1840062
Finding

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