Prenatal diagnosis of a short-rib-polydactylia syndrome type Saldino-Noonan at 17 weeks' gestation.
A case is described in which the family history and the sonographic findings during the 17th gestational week led to the suspicion of a short-rib-polydactylia syndrome of the Saldino-Noonan type and an abortion was induced. The ultrasound image disclosed cystic structures in the topographic area of the kidney, marked ascites and oligohydramnios and indicated a severe fetal developmental disturbance. Due to the oligohydramnios the extremities could not be interpreted sonographically. The pathological-anatomical findings confirmed the suspected short-rib-polydactylia syndrome of the Saldino-Noonan type. Typical skeletal changes, dysgenetic cystic kidneys and pancreatic fibrosis were especially indicative of the syndrome. The complete agenesia of the islets of Langerhans, present in our observation, has, as far as we know, previously not been reported in the case of short-rib-polydactylia syndromes.
D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000473:pathology; D000029:Abortion, Legal; D000328:Adult; D005260:Female; D005313:Fetal Death; D005385:Fingers / Q000002:abnormalities*; D006801:Humans; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012272:Ribs / Q000002:abnormalities*; D013577:Syndrome; D013997:Time Factors; D014463:Ultrasonography