Table 1 Patient’s blended phenotype consists of features of both achondroplasia and MFDM

Short stature

Yes

Yes

Yes ++

Macrocephaly

Yes

No

No

Microcephaly

No

Yes

Yes (relative)^*

Midface hypoplasia

Yes

No

Yes

Malar hypoplasia

Dysplastic ears

No

No

Yes

Yes

Yes

Yes

Speech delay

Yes

Yes

Yes

Learning Difficulties

No

Yes

Yes

Conductive hearing loss

Yes

Yes

Yes

Seizures

No

Yes

Yes