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Items: 2

1.

Wind-swept deformity of the knees

The appearance of abnormal valgus deformity in one knee in association with varus deformity in the other. [from HPO]

MedGen UID:
867641
Concept ID:
C4022030
Anatomical Abnormality
2.

Spondyloepimetaphyseal dysplasia with multiple dislocations

Spondyloepimetaphyseal dysplasia with joint laxity type 2 (SEMDJL2) is characterized by short stature, distinctive midface retrusion, progressive knee malalignment (genu valgum and/or varum), generalized ligamentous laxity, and mild spinal deformity. Intellectual development is not impaired. Radiographic characteristics include significantly retarded epiphyseal ossification that evolves into epiphyseal dysplasia and precocious osteoarthritis, metaphyseal irregularities and vertical striations, constricted femoral neck, slender metacarpals and metatarsals, and mild thoracolumbar kyphosis or scoliosis with normal or mild platyspondyly (summary by Min et al., 2011). For a discussion of genetic heterogeneity of SEMD with joint laxity, see SEMDJL1 (271640). [from OMIM]

MedGen UID:
350960
Concept ID:
C1863732
Disease or Syndrome

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