Waardenburg syndrome type 1

Waardenburg syndrome type 1 Relevant markers:

AkinesiaClubfootClubhandNuchal edema/fold/Increased nuchal translucency (NT)/cystic hygromaShort long bonesIncurved spineSmall choroid plexusShort rib/sNasal bone hypoplasia / aplasiaHypertelorismExencephalyAngulated bonesHypoplastic noseShort neckImperforate anus

Parents markers:

Holoprosencephaly

Involved genes:
(gene — definition — chromosome)

PAX3 — PAIRED BOX GENE 3 — 2q36.1

References:

2015

Prenat Diagn

Case report

Read on PubMed