Table 2.

Radiographic and Clinical Features of Autosomal Dominant TRPV4 Skeletal Dysplasias

FindingsPhenotype
MildIntermediateSevere
Familial digital arthropathy-brachydactylyAutosomal dominant brachyolmiaSpondylo-metaphyseal dysplasia, Kozlowski typeSpondylo-epiphyseal dysplasia, Maroteaux typeParastremmatic dysplasia 1Metatropic dysplasia
Hands/
Feet 		Normal at birth; progressive swelling & arthropathy (See details.)ClinodactylyBrachydactyly; hypoplastic carpal bones w/severe delay in ossificationBrachydactylyJoint contracturesBrachydactyly w/delayed carpal ossification
Spine Normal± scoliosis, kyphosis; mild platyspondylyPlatyspondyly; overfaced pedicles 2Significant kyphoscoliosis; overfaced pedicles 2Platyspondyly; overfaced pedicles 2
Long bones NAMinimal metaphyseal changes; short femoral neck w/irregular proximal femoral metaphyses± mild metaphyseal changes; genu varumMild-to-moderate metaphyseal changes; genu varumSevere metaphyseal changes w/severe limb deformity; joint contractures; other 3Dumbbell-shaped long bones w/epiphyseal dysplasia & prominent joints; progressive joint contractures; other 4
Pelvis NormalNASquare, short, flared iliac wings; flat, irregular acetabulae; coxa vara; ± supra-acetabular notchesChampagne-glass configuration of pelvic inletHalberd-shaped 5 pelvis; supra-acetabular notches
Other Average height; early-childhood onsetMild short stature; limbs unaffected; good physical functionShort-trunk short-stature dwarfism; broad chest; early-childhood onset w/waddling gaitShort-trunk short-stature dwarfismSignificant short-trunk short-stature dwarfismMay be lethal prenatally or perinatally; at birth, short-limb short-stature dwarfism 6

NA = not applicable

1.

Rarest TRPV4-related skeletal dysplasia

2.

Overfaced pedicles = lateral border of the vertebrae appears outside the lateral edge of the pedicles, a characteristic feature of TRPV4 skeletal dysplasias best viewed on AP x-ray of the spine; images in Nemec et al [2012].

3.

Additional findings: hyperplastic femoral trochanters, severe genu valgum, bowing of long bones, legs twisted along the long axis

4.

Histologic findings: thin seal of bone at the chondroosseous junction, absent primary metaphyseal spongiosa, abnormal metaphyseal vascular invasion, arrest of endochondral ring structures with persistence of circumferential growth

5.

The term "Halberd-shaped pelvis" is derived from the shape of a Swedish battle ax.

6.

Progressive kyphoscoliosis and platyspondyly subsequently alter proportions from short-limb to short-trunk dwarfism.

From: Autosomal Dominant TRPV4 Disorders

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