Table 2 Presence of radiographic and clinical features in the case series with a molecularly characterised type II collagenopathy chondrodysplasia.

Pt no	Diagnosis	Radiographic observations						Clinical features
		Platyspondyly	Metaphyseal widening	Delayed ossification	Coxa vara	Shortening of long bones	Hypoplastic mid‐face	Kyphosis/ scoliosis	Cleft palate	Abnormal audiogram	Chest signs
1	SEDC	+							+	+	Dextrocardia
2	SEDC	+	+	+	+			+
3	Kniest	+	+			+	+	+		+	Wide chest
4	SEDC						+
5	SEDC	+						+	+	+
6	Kniest		+			+		+	+	+
7	Kniest	+		+			+
8	SPD	+	+			+	+		+
9	Kniest		+					+			Atrial septal defect
10	SEDC	+	+			+		+	+
11	SEMD	+	+		+					+
12	SEMD	+	+	+	+	+		+
13	Kniest							+	+
14	SEDC							+		+

In the radiographic observations + indicates the presence of the radiographic feature based on available radiographs and reported by one person (PB). A skeletal survey was not available for reporting in all. + in the clinical features indicates the clinical feature was recorded in the hospital notes. All patients were assessed for cleft palate and all had an audiogram.