Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations.

[hirschsprung disease]

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 KAT 6 B failed to identify a mutation . Finally , direct sequencing of MED 12 , the gene mutated in Opitz-Kaveggia syndrome , Lujan-Fryns syndrome and X-linked Ohdo syndrome identified in the two sibs the missense mutation c .3443 G >A (p .Arg 1148 His ) inherited from the mother . This report further expands the phenotypic spectrum of MED 12 mutations .