Prenatal diagnosis of recurrence of Saldino-Noonan dwarfism

Abstract

The occurrence in a family of three spontaneous abortions and two siblings with Saldino-Noonan dwarfism supports an autosomal recessive etiology and raises the possibility of lethality early in utero. No long bones were visualized in radiographs at 19 weeks' gestation in the second affected pregnancy. highlighting the difficulties of distinguishing technical limitations from fetal anatomic abnormalities. Ultrasound studies demonstrated oligohydramnios. Radiologic prenatal diagnosis can rule out this condition prior to 20 to 24 weeks' gestation and affected fetuses can be suspected if not proved by radiographs and ultrasound examination.