We report on two male sibs, a fetus and a newborn, with short humeri and 
dysmorphic facial features including blepharophimosis. The newborn also had 
Hirschsprung disease. Goldberg-Shprintzen syndrome and the 
Say-Barber-Biesecker-Young-Simpson type of Ohdo syndrome were suspected but 
direct sequencing of KBP and KAT6B failed to identify a mutation. Finally, 
direct sequencing of MED12, the gene mutated in Opitz-Kaveggia syndrome, 
Lujan-Fryns syndrome and X-linked Ohdo syndrome identified in the two sibs the 
missense mutation c.3443G>A (p.Arg1148His) inherited from the mother. This 
report further expands the phenotypic spectrum of MED12 mutations.