Short stature, platyspondyly, hip dysplasia, and retinal detachment: an atypical type II collagenopathy caused by a novel mutation in the C-propeptide region of COL2A1: a case report

Table 1 Clinical features of type II collagenopathies resulting from mutations in the C-propeptide region of COL2A1, compared with this family

	PLSDT	SPPD	VPED	ANFH	STLI	Early-onset OA	Proband (IV:3)	Father (III:1)	Grandfather (II:3)
Lethal	+	-	-	-	-	-	-	-	-
Short stature	+	+	-	-	-	N/A	+	+	+
Delayed ossification	+	+	-	N/A	-	N/A	+ (hip only)	N/A	N/A
Platyspondyly	+	+	-	-	+	N/A	+	+	+
Metaphyseal involvement	+	+	-	-	-	N/A	+	+	N/A
Epiphyseal involvement	+	+	+	+ (hip only)	+	N/A	+	+	+
Early onset arthritis	N/A	+	+	+ (hip only)	+	+	N/A	-	N/A
Brachydactyly	+	+	+	-	-	N/A	-	-	-
Osteopenia/osteoporosis	N/A	N/A	N/A	+	+	N/A	N/A	+	+
Early onset myopia	-	+	-	-	+	N/A	-	+	N/A
Retinal detachment/tear	-	+	+	-	+	N/A	-	+	N/A
Glaucoma	-	-	-	-	+	N/A	-	+	N/A
Vitreal abnormalities	+	+	+	-	+	N/A	-	-	N/A
Hearing loss	-	+	-	-	+	N/A	-	-	-
Flattened facial profile	+	+	-	-	+	N/A	+	-	-
Pierre-Robin sequence	+	N/A	-	-	+	N/A	+	-	-
Cleft lip/cleft palate/bifid uvula	-	+	-	-	+	N/A	+	-	-

N/A not available, PLSDT platyspondylic lethal skeletal dysplasia, Torrance type, SPPD spondyloperipheral dysplasia, VPED vitreoretinopathy with phalangeal epiphyseal dysplasia, ANFH avascular necrosis of the femoral head, STL1 Stickler syndrome type I, OA osteoarthritis

ISSN: 1471-2350