Table 3

Comparison of characteristic clinical features present across the DONSON: MISSLA–MIMIS–MGORS spectrum

Clinical featuresMISSLAMIMISDONSON-MGORS
Growth
Microcephaly+++++
Short stature++++
Proportionality in size−+*+
Skeletal
Craniosynostosis−+−
Micromelia+/-++−
Radial ray/thumb+/-++−
Patellar a/hypoplasia+/-NA†*
Facies
Characteristic craniofacies−++NA‡
Microtia+−++
Low-set/abnormally rotated ears++++
Other
 Lethality−++−

  • ++=strong association (defining feature), +=common association, +/−=less common association, −=not associated.

  • *The proportionate reduction in size in MIMIS individuals is based on the micromelic lower limbs reducing height, rather than an overall growth restriction.

  • †The perinatal lethality prevented examination of the patella, which is a later ossifying bone.

  • ‡Photos were not available for review in all cases.

  • MGORS, Meier-Gorlin syndrome; MIMIS, microcephaly-micromelia syndrome; MISSLA, microcephaly and short stature, with limb anomalies.