Table 2

Differential diagnosis of Myhre syndrome

MyhreLAPSGeleophysic dysplasiaAcromicric dysplasiaMoore-Federman
Short stature+++++
Brachydactyly+++++
Joint limitation+++++
Muscular hypertrophy++/−
Mental retardationFrequentLearning difficulties
Deafness+ 9/11+ 3/5
Abnormal skin++++
Laryngotracheal stenosis− (too young ?)+ (severe adult onset)+ (childhood onset)+ (childhood onset)
Hepatomegaly++
Cardiac diseaseCongenital malformationsPericarditisProgressive cardiac valve disease+/−
TransmissionAD? X linked? (11M/0F)AD? (1M/4F)ARADAD