Skip to main content

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)