Table 1.

Phenotypic similarities and differences between patient with Jansen type of spondylometaphyseal dysplasia (Campbell et al., 2000) and reported patient

Phenotype	Patient with Jansen type of spondylometaphyseal dysplasia	Patient with new form or a variant of SMD type A4
Normal head and neck	+	+
Face	Dysmorphic	Normal
Large ears	+	+
Normal hearing and vision	+	+
Height	Short (-7 SD at 5.5 years)	Short (-9.2 SD at 6.5 years)
Short trunk	+	+
Normal lungs, heart, abdomen	+	+
Short extremities & rhizomelia	+	+
Genu valgum deformity	+	+
Relatively long hands & feet	+	+
Normal mental development	+	+