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.
Hennekam
R C
RC
Cohen
M M
MM
D000015:Abnormalities, Multiple / Q000209:etiology* / Q000503:physiopathology; D000328:Adult; D017209:Apoptosis / Q000502:physiology*; D006801:Humans; D008297:Male