Kozlowski-Warren-Fisher Syndrome

Lethal malformative syndrome characterized by cloverleaf skull and bone dysplasia in stillborns.

Cloverleaf Skull with Generalized Bone Dysplasia.

One reported case. Male infant stillborn at 35 weeks' gestation. Mode of genetic inheritance unknown.

Cloverleaf deformity of the skull, with extremely broad anterior fontanel, frontal, and coronal sutures, small posterior fossa and foramen magnum, and gross hydrocephaly. Midfacial hypoplasia with shallow orbits, a narrow chest with long, narrow lungs, normal heart except for a large foramen ovale with a fenestrated, diaphanous flap were further findings. The limbs were short with the proximal segment being most severely affected. The abdominal contents were morphologically normal, but there were widespread petechial hemorrhages of the organs.

Lethal in utero.