Hypothesis: patient with possible disturbance in programmed cell death

Programmed cell death is a physiological process in mammalian development by which specific types of cells are eliminated, and, hence, is of fundamental importance in normal human embryogenesis. A patient is described with multiple congenital anomalies that may be explained by a disturbance of programmed cell death. Anomalies included macrocephaly, hypoplastic lacrimal ducts, narrow external ear canals, pharyngeal mucous membrane fold, unilateral cryptorchidism, cord-like vasa deferentia, and complete cutaneous syndactyly of the hands and feet