Prenatal characterization of novel neurosonographic findings in a fetus with SOTOS syndrome.

Autor: Bornstein E; Division of Maternal Fetal Medicine, Department of OBGYN, Lenox Hill Hospital, Northwell, New York, New York, USA., Reiss S; Division of Maternal Fetal Medicine, Department of OBGYN, Lenox Hill Hospital, Northwell, New York, New York, USA., Malinger G; Division of OBGYN Ultrasound, Lis Women's and Maternity Hospital, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Jazyk: angličtina
Zdroj: Prenatal diagnosis [Prenat Diagn] 2024 Mar; Vol. 44 (3), pp. 360-363. Date of Electronic Publication: 2023 Dec 27.
DOI: 10.1002/pd.6504
Abstrakt: Sotos syndrome is a rare genetic disorder that occurs in less than 1 in 10,000 births. It is characterized by rapid growth during childhood (tall stature and unusually large head), typical facial dysmorphic features, neurodevelopmental delays of both mental and movement abilities, and learning disabilities. Prenatal diagnosis of Sotos syndrome is infrequent and sonographic findings are not well characterized as the condition is generally detected during childhood. We present a case in which routine third trimester ultrasound detected intracranial findings including ventriculomegaly, periventricular pseudocysts, and increased periventricular echogenicity. Although initially suspected to be the result of fetal infection with CMV, amniocentesis excluded fetal infection and microarray analysis detected a de novo 2.13 MB interstitial deletion of 5q35.2-35.3 involving several genes including the NSD1 gene, thus confirming the diagnosis of Sotos syndrome. This case provides novel characterization of the sonographic phenotype in a fetus with Sotos syndrome and discusses the differential diagnosis.
(© 2023 John Wiley & Sons Ltd.)
Databáze: MEDLINE
Externí odkaz: