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J Med Genet 2003;40:546-551 doi:10.1136/jmg.40.7.546
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Myhre syndrome: new reports, review, and differential diagnosis

Table 2

Differential diagnosis of Myhre syndrome

Myhre LAPS Geleophysic dysplasia Acromicric dysplasia Moore-Federman
Short stature + + + + +
Brachydactyly + + + + +
Joint limitation + + + + +
Muscular hypertrophy + +/−
Mental retardation Frequent Learning difficulties
Deafness + 9/11 + 3/5
Abnormal skin + + + +
Laryngotracheal stenosis − (too young ?) + (severe adult onset) + (childhood onset) + (childhood onset)
Hepatomegaly + +
Cardiac disease Congenital malformations Pericarditis Progressive cardiac valve disease +/−
Transmission AD? X linked? (11M/0F) AD? (1M/4F) AR AD AD

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