Smith Magenis syndrome

Smith Magenis syndrome Relevant markers:

BrachycephalyMild ventriculomegaly (12-15 mm)Nuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaPulmonary stenosisRight aortic archShort long bonesTricuspid regurgitationPolyhydramniosBorderline ventriculomegaly (10-12 mm)

Parents markers:

Outflow tractsVentricular septal defect (VSD)

Incidence:

1/25000 — -

Involved genes:
(gene — definition — chromosome)

RAI1 — RETINOIC ACID-INDUCED GENE 1 — 17p11.2

Inheritance mode:

AD, Sporadic (new mutation)

Other online databases:

OMIM

References:

2000	Fetal Diagn Ther	Case report	Read on PubMed
2016	Taiwan J Obstet Gynecol	Case report	Read on PubMed
2020	J Genet	Case report	Read on PubMed