Prenatal diagnosis of thoracopelvic dysplasia - A case report

BACKGROUND: Thoracopelvic dysplasia, a variant of asphyxiating thoracic dys plasia (Jeune syndrome), is an uncommon skeletal disorder characterized by a small thorax, pelvic abnormalities and other complex, combined anomalies, including hypomelia, polydactyly and renal anomalies. CASE: A 32-year-old woman, gravida 1, para 0, was referred at 27 weeks' ges tation due to polyhydramnios. Sonography revealed hydramnios, low fetal tho racic circumference (TC) and abdominal circumference (AC) ratio (0.78), sku ll and skin edema, increased nuchal translucency (7 mm), micrognathia, low- set ears, left cardiac deviation (66 degrees), overriding fingers, and club and rock-buttock feet, Amniocentesis revealed a normal karyotype (46,XY). Asphyxiating thoracic dysplasia was considered. At 40 weeks' gestation, a m ale infant was delivered vaginally. Besides the prenatal findings, cryptorc hidism and high-arched palate were noted. Radiography of the infant reveale d a narrow, funnel-shaped thorax and small pelvis with short, flared iliac bones; poorly developed acetabulum; and small, shallow sciatic notch. No dy spnea was observed at five months postpartum. CONCLUSION: Thoracopelvic dysplasia should be considered when a low TC/AC r atio (< 0.8) is observed. In this case the final diagnosis was made after d etailed exclusion of other disorders combined with observation of a small t horax. Prenatal diagnosis of thoracopelvic dysplasia is possible.