Fryns syndrome: neurologic findings in a survivor.

Fryns syndrome, a multiple congenital anomaly syndrome associated with diaphragmatic defects, craniofacial dysmorphism, distal digital hypoplasia, and neurologic abnormalities, was first described in 1979. This autosomal recessive disorder is usually associated with stillbirth or death immediately after birth. Detailed neurologic findings in the third survivor beyond the neonatal period are reported, and neurologic abnormalities in other cases are reviewed. Initially, hypotonia, areflexia, and weakness were seen. Myoclonus developed immediately after birth and was well controlled with high-dose valproate. Electroencephalography revealed slowing and irregular paroxysmal discharges with spikes and sharp waves that disappeared with time and treatment. Magnetic resonance imaging demonstrated partial agenesis of the corpus callosum, a Dandy-Walker malformation, and progressive cerebral and brainstem atrophy. This syndrome should be considered in patients with unusual facial features and digital abnormalities associated with frequent early myoclonus.

A supportive intervention protocol for couples terminating a pregnancy for genetic reasons.

This protocol recognizes the couple's sense of loss, the reality of their situation, and their decision to terminate the pregnancy. Couples who participated in our protocol reported that their involvement had a favorable effect on their experience and adjustment. In addition, the loss of the pregnancy does not seem to discourage them from pursuing future pregnancies or utilizing prenatal diagnostic services. This support protocol may be used as a model to be incorporated into prenatal diagnosis clinics and genetic counseling programs.