Patient selection: microdeletion at 4q25
Genes affected: PITX2, EGF, ELOVL6, ENPEP
Inheritance: autosomal dominant
Clinical features:
(1) Axenfeld-Rieger anomaly (ARA, defect of anterior eye)
(2) dental anomalies (dental agenesis, oligodontia)
(3) cardiac malformations (tetralogy of Fallot, other)
(4) umbilical defects
(5) maxillary hypoplasia
(6) variable mild cognitive delay
(7) variable behavioral problems
(8) variable malformations of fingers (long fingers, short metacarpals, other)
