Prenatal diagnosis of dyssegmental dysplasia - A case report

BACKGROUND: Since the first use of sonography, most fetal dwarfism has been detectable prenatally The correct differentiation of the subtype of dwarfi sm is difficult at times. Dyssegmental dysplasia is probably an exception t o these subtypes because the vertebral disorganization and occipital enceph alocele at times permits prenatal diagnosis. CASE: A 34-year-old woman, gravida 3, para 1, elective abortion 1 for dwarf ism, was referred at 27 weeks' gestation for cystic hygroma. Further sonogr aphic findings included: cystic hygroma with massive ascites, micromelia, o ccipital encephalocele, spinal disorganization and hydramnios. The fetus an d both parents appeared to have It normal karyotype. Later the pregnancy wa s terminated with vaginal delivery. The fetus had micromelia, camptomelia, cystic hygroma, a flat face, short neck, short trunk, narrow thorax with pr otuberant abdomen, scoliosis and clubfeet. CONCLUSION: Sonography is effective in prenatal diagnosis of dyssegmental d ysplasia. With sonography, diagnosis of dyssegmental dysplasia becomes poss ible as early as the first trimester.