Table 3.

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

Clinical features	MISSLA	MIMIS	DONSON-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.