Short-rib polydactyly syndrome (SRPS) type III diagnosed during routine prenatal ultrasonographic screening. A case report.
The prenatal diagnosis of skeletal dysplasias is often initiated by the finding of a shortened extremity during a routine sonographic examination. Second-trimester diagnosis of these anomalies allows the couple to consider the option of terminating a pregnancy when a lethal anomaly is detected. A 21-year-old Bedouin woman underwent routine ultrasonographic screening at 20 weeks' gestation. Severe micromelia, a narrow thorax with shortened ribs, and postaxial polydactyly were detected. The patient delivered a male dwarf at 20 weeks' gestation following prostaglandin induction of labour for a diagnosis of short-rib polydactyly syndrome type III. The prenatal ultrasonographic diagnosis of short-rib polydactyly syndrome type III was made at 20 weeks' gestation, allowing termination of the pregnancy. A proper sonographic approach to skeletal dysplasias allows both early detection and differentiation between lethal and non-lethal anomalies.
Meizner
I
I
Department of Obstetrics and Gynaecology, Soroka Medical Centre, Beer-Sheva, Israel.
Barnhard
Y
Y
D000328:Adult; D005260:Female; D005385:Fingers / Q000002:abnormalities / Q000196:embryology; D006801:Humans; D008297:Male; D011247:Pregnancy; D012272:Ribs / Q000002:abnormalities / Q000196:embryology; D012779:Short Rib-Polydactyly Syndrome / Q000000981:diagnostic imaging*; D016216:Ultrasonography, Prenatal