Copyright 1999, Philippe Jeanty. Please do not copy. This form is compatible with life. Usually results in early death.
Affected fetuses have severe neurologic compromise, with poor prognosis and early death.
Variable, depending on the etiology. If caused by fresh mutations, the risk of recurrence is very low. Pfeiffer syndrome is genetically heterogeneous. Cloanal atresia, tracheo and bronchomalacia, cloverleaf skull, fused vertebra, Arnold-Chiari malformation, hydrocephalus, and imperforate anus. After birth, seizures and mental retardation may develop.