Prenatal diagnosis of Juberg–Hayward syndrome

Juberg–Hayward syndrome is a rare autosomal recessive syndrome characterised by the association of growth retardation, microcephaly, cleft lip and palate, and thumb and radial ray abnormalities. To date, no prenatal cases have been reported. Here, we report on the first prenatal case of Juberg–Hayward syndrome. The diagnosis was established following fetopathological study. Besides the cardinal features of the syndrome, this prenatal case was remarkable for the severity of the short arm malformation and by the finding of big toe agenesis and cerebral abnormalities including hydrocephalus, agenesis of corpus callosum, and cerebellar hypoplasia. We conclude that the diagnosis of Juberg–Hayward syndrome can be discussed prenatally following ultrasound diagnosis of the association of intrauterine growth restriction, microcephaly, thumb/radial anomalies, and cleft lip/palate. Copyright © 2005 John Wiley & Sons, Ltd.     

Split notochord syndrome variant: prenatal findings and neonatal management

Spilt notochord syndrome is an extremely rare form of spinal dysraphism characterized by a complete cleft of the spine and a persistent communication between endoderm and ectoderm. A variant of split notochord syndrome was diagnosed in a 25-week-old fetus showing a prolapsed congenital colostomy and a spinal cystic lesion. The final diagnosis included protruding colon segment, imperforate anus with a rectourethral fistula and lipomyelomeningocele. The ultrasound features of the condition and the post-natal management are discussed. The neonate was successfully treated with a posterior sagittal anorectoplasty, while the lipomyelomeningocele was resected at a later stage. Copyright © 2005 John Wiley & Sons, Ltd.     

Relationships Between Developmental Stability and Fitness: Application for Conservation Biology

One of the most difficult tasks in conservation biology is identifying populations subject to stress before such stress has a detrimental impact on the population, thus allowing conservation and remedial action to be undertaken. Measuring fitness (fecundity, survival, etc.) changes directly is often difficult, expensive, or impractical. The ability of an organism to buffer its development against disturbances (developmental stability) is often considered an integral component of an individual's fitness. Data are presented from a number of studies that establish a clear relationship between developmental stability and fitness in response to both genetic and environmental stress. Consequently, I suggest that developmental stability may be used as a surrogate for more direct fitness estimation for use in conservation biology and biomonitoring programs and that is has widespread application as an early warning system for monitoring the effect of genetic and environmental stresses on natural populations.