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Table 2 Clinical and radiographic features of all patients, a part from the ones already described in the literature (1)

From: TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

PATIENT   1 5 6 7 8 12 13 15 16 17 18 19 20 21 22 23 24 25 26
DIAGNOSIS   MD MD MD MD MD MD MD SMDK SMDK SMDK SMDK SMDK SMDK SMDK SMDK MD SMDK ADB ADB
STATURE SHORT + + + + - + + + + - + + - - + + + +/- +
  SHORT TRUNK + + + + - + + + + +/- + + +/- +/- + N/A - + +/-
SPINE (KYPHO)SCOLIOSIS + + + + + + + + + +/- - + +/- - + + +/- - -
  PLATYSPONDYLY + + + + - + + + + + + + + + + N/A - + +/-
  OVERFACED PEDICLES - +/- +/- +/- - - - + + + + + + + + N/A - - -
PELVIS HALBERD SHAPED + - - - + + + - - - - - - - - N/A - - -
METAPHYSEAL
INVOLVMENT 		SHORT
FEMORAL NECKS 		+ + + + + + + + + + + + + + + N/A + - -
  FLARED
METAPHYSES 		+ - +/- +/- ++ + + - - +/- - - - - - N/A - - -
RESPIRATORY
PROBLEMS 		  + - - - ++ + + - - - - - - - - +/- - - -
  1. MD = Metatropic Dysplasia; SMDK = Spondylometaphyseal Dysplasia Kozlowski type; ADB = Autosomal Dominant Brachyolmia; the feature is considered as present and severe (++); present (+); mildly present (+/-); absent (-); data not available (N/A)
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172