ABSTRACT
Ophthalmo-acromelic syndrome type Waardenburg is an extremely rare autosomal recessive syndrome comprising eye malformations ranging from true anophthalmia to mild microphthalmia with acromelic malformations. We report a case of ophthalmo-acromelic syndrome type Waardenburg diagnosed prenatally.
Subject(s)
Ultrasonography, Prenatal , Waardenburg Syndrome/pathology , Adult , Consanguinity , Fatal Outcome , Female , Humans , Pregnancy , Respiratory Insufficiency , Waardenburg Syndrome/diagnostic imagingABSTRACT
We report a congenital splenic cyst that was revealed by prenatal sonography at 31 weeks' gestation. Serial prenatal sonographic examinations showed a slight enlargement of the cyst. However, sonography performed when the infant was 7 months of age showed the cyst had spontaneously and completely regressed. We recommend that practitioners adopt a more conservative approach in such infants, one that includes follow-up sonographic examinations, rather than instituting interventional treatment.
