Hydrolethalus syndrome

*Gene map locus 11q24.2

HLS

HLS1

Hydrolethalus syndrome 1

[Clinical features: lethal multiple midline malformation syndrome; external hydrocephaly with absent midline structures of the brain; polyhydramnions; micrognathia; polydactyly]

[Inheritance: autosomal recessive]


Assignment of the Locus for Hydrolethalus Syndrome to a Highly Restricted Region on 11q23-25	Increased nuchal translucency in a 13-week chromosomally normal fetus with severe micrognathia
American Journal of Human Genetics	Diploma in Fetal Medicine Series

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Edited by Aldo Campana, August 21, 2012