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

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

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		+	-	-	-	++	+	+	-	-	-	-	-	-	-	-	+/-	-	-	-

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)

ISSN: 1750-1172