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

Eran Bornstein*, Sarah Reiss, Gustavo Malinger

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)360-363
Number of pages4
JournalPrenatal Diagnosis
Volume44
Issue number3
DOIs
StatePublished - Mar 2024
Externally publishedYes

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