Sotos syndrome - Phenotip

Sotos syndrome Relevant markers:

DolichocephalyHead circumference > 95th percentileMega cisterna magnaNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPolyhydramniosThin corpus callosum

Parents markers:

Corpus callosum hypoplasiaMacrocephalyPyelectasis/hydronephrosisVentriculomegaly

Incidence:

1/15000 — -

Involved genes:
(gene — definition — chromosome)

NSD1 — nuclear receptor binding SET domain protein 1 — 5q35.2-q35.3

References:

2002	Prenat Diagn	Case report	Read on PubMed
2008	Am J Med Genet A	Case report	Read on PubMed
2014	Taiwan J Obstet Gynecol	Case report	Read on PubMed